ClinVar Miner

Submissions for variant NM_006929.5(SKIC2):c.3622C>T (p.Arg1208Cys)

gnomAD frequency: 0.00014  dbSNP: rs144418335
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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 RCV001930451 SCV002190251 uncertain significance not provided 2022-07-14 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1208 of the SKIV2L protein (p.Arg1208Cys). This variant is present in population databases (rs144418335, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with SKIV2L-related conditions. ClinVar contains an entry for this variant (Variation ID: 1414402). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
3billion RCV004720335 SCV005328759 likely benign Trichohepatoenteric syndrome 2 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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