{{Rsnum
|rsid=33962952
|Gene=MYO1A
|Chromosome=12
|position=57037618
|Orientation=plus
|GMAF=0.01469
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=MYO1A
}}{{omim
|id=601478
|rsnum=33962952
|variant=0005
}}

{{ClinVar
|rsid=33962952
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=57431402
|CHROM=12
|GMAF=0.0147
|dbSNPBuildID=126
|SSR=0
|SAO=1
|VP=0x050360000000140516110100
|GENEINFO=MYO1A:4640
|GENE_NAME=MYO1A
|GENE_ID=4640
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000012.11:g.57431402C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=601478.0005
|CLNSIG=5
|CLNCUI=C1842939
|CLNDBN=Deafness, autosomal dominant 48; AllHighlyPenetrant
|Disease=Deafness; AllHighlyPenetrant
|CLNACC=RCV000008627.1; RCV000038471.1
|Tags=PM;S3D;SLO;VLD;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9853; 0.01469
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; MedGen
|CLNDSDBID=NBK1434:C1842939:607841:90635; CN169374
|COMMON=1
}}

{{GET Evidence
|gene=MYO1A
|aa_change=Gly662Glu
|aa_change_short=G662E
|impact=pathogenic
|qualified_impact=Moderate clinical importance, Uncertain pathogenic
|inheritance=dominant
|quality_scores=Array
|dbsnp_id=rs33962952
|overall_frequency_n=277
|overall_frequency_d=10758
|overall_frequency=0.0257483
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=0
|qualitycomment_in_silico=Y
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|qualityscore_severity=3
|qualitycomment_severity=Y
|qualityscore_treatability=1
|in_omim=Y
|pph2_score=0.001
|nblosum100=6
|autoscore=2
|webscore=N
|variant_evidence=1
|clinical_importance=0
|summary_short=Although one report speculated that this variant may cause dominant, early-onset sensorineural hearing loss, the findings lacked statistical significance. Notably, this gene is not a clinically tested gene and another of the eight variants reported by these authors (S797F) has since been observed in a PGP participant with no symptoms of hearing loss.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}