ClinVar Miner

Submissions for variant NM_001042702.5(PJVK):c.823dup (p.Ser275fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003722202 SCV004511462 pathogenic not provided 2024-03-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser275Phefs*2) in the DFNB59 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 78 amino acid(s) of the DFNB59 protein. This variant is present in population databases (rs757539839, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with DFNB59-related conditions. This variant disrupts a region of the DFNB59 protein in which other variant(s) (p.Val330Leufs*7) have been determined to be pathogenic (PMID: 17718865). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005030224 SCV005655657 likely pathogenic Autosomal recessive nonsyndromic hearing loss 59 2024-01-26 criteria provided, single submitter clinical testing

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