ClinVar Miner

Submissions for variant NM_014639.4(SKIC3):c.1499G>T (p.Gly500Val)

gnomAD frequency: 0.00001  dbSNP: rs138144509
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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 RCV000767539 SCV003459793 uncertain significance not provided 2024-04-30 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 500 of the TTC37 protein (p.Gly500Val). This variant is present in population databases (rs138144509, gnomAD 0.006%). This missense change has been observed in individual(s) with trichohepatoenteric syndrome (PMID: 29527791). ClinVar contains an entry for this variant (Variation ID: 625532). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV000767539 SCV000898161 likely pathogenic not provided 2018-10-01 no assertion criteria provided clinical testing

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