ClinVar Miner

Submissions for variant NM_014639.4(SKIC3):c.3514C>T (p.Gln1172Ter)

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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 RCV002631431 SCV002964113 pathogenic not provided 2023-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1172*) in the TTC37 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TTC37 are known to be pathogenic (PMID: 20176027, 21120949). This variant is present in population databases (rs780738565, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with TTC37-related conditions. ClinVar contains an entry for this variant (Variation ID: 1931175). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV002631431 SCV004167884 uncertain significance not provided 2023-04-12 criteria provided, single submitter clinical testing Has not been previously reported in peer-reviewed literature as pathogenic or benign to our knowledge. However, in an abstract by Polo et al. (2019), p.(Q1172*) was seen phase unknown with a second TTC37 variant in a proband with clinical features of trichohepatoenteric syndrome; 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; This variant is associated with the following publications: (PMID: Polo_2019_Abstract)

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