ClinVar Miner

Submissions for variant NM_005993.5(TBCD):c.337C>T (p.Arg113Ter)

gnomAD frequency: 0.00001  dbSNP: rs750717767
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598715 SCV000710757 likely pathogenic not provided 2023-09-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); 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
Labcorp Genetics (formerly Invitae), Labcorp RCV000598715 SCV004644676 pathogenic not provided 2023-08-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg113*) in the TBCD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TBCD are known to be pathogenic (PMID: 27666370, 27666374). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 504433). This variant has not been reported in the literature in individuals affected with TBCD-related conditions. This variant is present in population databases (rs750717767, gnomAD 0.003%).

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