ClinVar Miner

Submissions for variant NM_001193315.2(VIPAS39):c.775C>T (p.Arg259Ter)

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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 RCV003856209 SCV004696377 pathogenic not provided 2023-11-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg259*) in the VIPAS39 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in VIPAS39 are known to be pathogenic (PMID: 20190753, 22753090). This variant is present in population databases (rs143865789, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with VIPAS39-related conditions. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV003856209 SCV005882421 uncertain significance not provided 2024-09-05 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; Has not been previously published as pathogenic or benign to our knowledge

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