ClinVar Miner

Submissions for variant NM_001042702.5(PJVK):c.723del (p.Phe242fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003716906 SCV004504674 pathogenic not provided 2023-03-20 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with deafness (PMID: 17718865). 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. This sequence change creates a premature translational stop signal (p.Phe242Leufs*7) in the DFNB59 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 111 amino acid(s) of the DFNB59 protein.

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