{{Rsnum
|rsid=72552293
|Gene=GPD1L
|Chromosome=3
|position=32140231
|Orientation=plus
|GMAF=0.001377
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=GPD1L
}}{{omim
|id=611778
|rsnum=72552293
|variant=0003
}}{{ClinVar
|rsid=72552293
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=32181723
|CHROM=3
|GMAF=0.0014
|dbSNPBuildID=130
|SSR=0
|SAO=1
|VP=0x050268000000040016110100
|GENEINFO=GPD1L:23171
|GENE_NAME=GPD1L
|GENE_ID=23171
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.32181723A>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=611778.0003
|CLNSIG=5
|CLNCUI=C2673193
|CLNDBN=Brugada syndrome 2; Sudden infant death syndrome
|Disease=Brugada syndrome 2; Sudden infant death syndrome
|CLNACC=RCV000000824.1; RCV000029945.1
|Tags=PM;PMC;S3D;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9986; 0.001377
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; MedGen:OMIM:SNOMED_CT
|CLNDSDBID=NBK1517:C2673193:611777:130; C0038644:272120:51178009
|COMMON=1
}}{{PMID Auto
|PMID=17967976
|Title=Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome.
|OA=1
}}

{{PMID Auto
|PMID=19606473
|Title=The genetic basis of Brugada syndrome: a mutation update.
}}

{{PMID Auto
|PMID=19815826
|Title=Cardiac metabolic state and Brugada syndrome: a link revealed.
}}{{GET Evidence
|gene=GPD1L
|aa_change=Ile124Val
|aa_change_short=I124V
|impact=pathogenic
|qualified_impact=High clinical importance, Uncertain pathogenic
|inheritance=dominant
|quality_scores=Array
|dbsnp_id=rs72552293
|overall_frequency_n=12
|overall_frequency_d=10758
|overall_frequency=0.00111545
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=!
|qualitycomment_in_silico=Y
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=5
|qualityscore_treatability=1
|in_omim=Y
|nblosum100=-4
|autoscore=3
|webscore=N
|variant_evidence=2
|clinical_importance=0
|summary_short=Found in a single SIDS case (out of 304 total cases). Although the authors described a functional impact of the variant in cell lines, the findings in human subjects did not have statistical significance and there is currently no clinical testing for variants in this gene.
}}