ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.8791del (p.Trp2931fs)

dbSNP: rs2142388348
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnosis Center for Deafness RCV002225038 SCV001984961 likely pathogenic Autosomal recessive nonsyndromic hearing loss 3 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003560842 SCV004298170 pathogenic not provided 2023-01-18 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: 1301970). This premature translational stop signal has been observed in individual(s) with deafness (PMID: 23767834, 33597575, 34416374, 35346193). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp2931Glyfs*103) 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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