ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.9517G>A (p.Gly3173Arg)

dbSNP: rs2046776291
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002251184 SCV002521675 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 2022-05-22 criteria provided, single submitter clinical testing The variant was co-segregated with Deafness, autosomal recessive 3 in multiple affected family members (PMID: 25792667). In silico prediction tools and conservation analysis predicted that this variant was probably damaging to the protein structure/function (REVEL: 0.936>=0.6, SPLICEAI: 0.73). . It is absent from the gnomAD v2.1.1 dataset. Amino acid change identical to known pathogenic variant has been previously reported with supporting evidence; this might be considered evidence of a supporting level (PMID:25792667). Therefore, this variant is classified as uncertain significanceaccording to the recommendation of ACMG/AMP guideline.

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