ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.245G>T (p.Arg82Leu)

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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 RCV002619011 SCV003496805 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-04-28 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 82 of the SDCCAG8 protein (p.Arg82Leu). This variant is present in population databases (rs577345357, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
PreventionGenetics, part of Exact Sciences RCV004736276 SCV005357188 uncertain significance SDCCAG8-related disorder 2024-03-15 no assertion criteria provided clinical testing The SDCCAG8 c.245G>T variant is predicted to result in the amino acid substitution p.Arg82Leu. This variant was reported in an individual with Bardet-Biedl syndrome; however, it was reported as a potential modifier allele, not a primary causative variant (Perea-Romero et al. 2022. PubMed ID: 35835773). This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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