ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.842G>A (p.Gly281Asp)

gnomAD frequency: 0.00003  dbSNP: rs765751496
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001227964 SCV001400345 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-07-11 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 281 of the SDCCAG8 protein (p.Gly281Asp). This variant is present in population databases (rs765751496, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. ClinVar contains an entry for this variant (Variation ID: 955345). 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 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.
Fulgent Genetics, Fulgent Genetics RCV001227964 SCV002815948 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2024-04-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004734059 SCV005356540 uncertain significance SDCCAG8-related disorder 2024-03-29 no assertion criteria provided clinical testing The SDCCAG8 c.842G>A variant is predicted to result in the amino acid substitution p.Gly281Asp. To our knowledge, this variant has not been reported in the literature. 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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