ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.1261C>T (p.Pro421Ser)

gnomAD frequency: 0.00001  dbSNP: rs762439635
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825386 SCV000966683 uncertain significance not specified 2018-08-16 criteria provided, single submitter clinical testing The p.Pro421Ser variant in MYO15A has not been previously reported in individual s with hearing loss but has been identified in 0.02% (4/18866) of East Asian chr omosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitut e.org). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Pro421Ser variant is uncertain. ACMG/AMP Criteria applied : PM2_Supporting.
Molecular Diagnosis Center for Deafness RCV002224973 SCV001984882 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 criteria provided, single submitter clinical testing

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