ClinVar Miner

Submissions for variant NM_014639.4(SKIC3):c.3272del (p.Ile1090_Leu1091insTer)

dbSNP: rs752052886
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000850399 SCV000992596 likely pathogenic Trichohepatoenteric syndrome 1 2019-07-03 criteria provided, single submitter research
GeneDx RCV002293493 SCV002586474 uncertain significance not provided 2022-04-21 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
Labcorp Genetics (formerly Invitae), Labcorp RCV002293493 SCV004267782 pathogenic not provided 2024-01-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1091*) 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 (rs752052886, gnomAD 0.004%). 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: 689648). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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