ClinVar Miner

Submissions for variant NM_014639.4(SKIC3):c.2808G>A (p.Trp936Ter)

dbSNP: rs534237033
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000519180 SCV000228639 pathogenic not provided 2014-10-14 criteria provided, single submitter clinical testing
GeneDx RCV000519180 SCV000617816 pathogenic not provided 2020-07-07 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; This variant is associated with the following publications: (PMID: 23326254, 20176027)
Labcorp Genetics (formerly Invitae), Labcorp RCV000519180 SCV003525885 pathogenic not provided 2023-12-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp936*) 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 (rs534237033, gnomAD 0.05%). This premature translational stop signal has been observed in individual(s) with trichohepatoenteric syndrome (PMID: 20176027, 23326254). ClinVar contains an entry for this variant (Variation ID: 196135). 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.
OMIM RCV000176881 SCV000045520 pathogenic Trichohepatoenteric syndrome 1 2010-06-01 no assertion criteria provided literature only

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