ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.9400C>T (p.Arg3134Ter)

gnomAD frequency: 0.00001  dbSNP: rs1330631412
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnosis Center for Deafness RCV001780438 SCV001984969 pathogenic Autosomal recessive nonsyndromic hearing loss 3 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001780438 SCV002017687 pathogenic Autosomal recessive nonsyndromic hearing loss 3 2020-06-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003560843 SCV004298174 pathogenic not provided 2023-05-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1301978). This premature translational stop signal has been observed in individuals with deafness (PMID: 23208854, 30896630, 33095980, 35346193). This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Arg3134*) in the MYO15A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYO15A are known to be pathogenic (PMID: 17546645).

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