ClinVar Miner

Submissions for variant NM_001385.3(DPYS):c.352C>T (p.Arg118Ter)

gnomAD frequency: 0.00009  dbSNP: rs546700169
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422814 SCV000512854 uncertain significance not provided 2024-02-21 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; This variant is associated with the following publications: (PMID: 31589614)
Labcorp Genetics (formerly Invitae), Labcorp RCV000422814 SCV003256243 pathogenic not provided 2023-08-30 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: 377800). This variant has not been reported in the literature in individuals affected with DPYS-related conditions. This variant is present in population databases (rs546700169, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Arg118*) in the DPYS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DPYS are known to be pathogenic (PMID: 20362666).

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