ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.2456C>A (p.Ser819Ter)

dbSNP: rs767378045
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001732113 SCV001982971 pathogenic not provided 2021-09-30 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 27573290, 30303587, 34093702)
Labcorp Genetics (formerly Invitae), Labcorp RCV001732113 SCV002241831 pathogenic not provided 2021-08-31 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 996594). This premature translational stop signal has been observed in individuals with deafness (PMID: 27573290; Invitae). This sequence change creates a premature translational stop signal (p.Ser819*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
University of Washington Center for Mendelian Genomics, University of Washington RCV001291106 SCV001479472 likely pathogenic Hearing loss, autosomal recessive no assertion criteria provided research

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