ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.2026C>G (p.Gln676Glu)

gnomAD frequency: 0.00001  dbSNP: rs1242245359
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001314261 SCV001504787 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-04-06 criteria provided, single submitter clinical testing 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. 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"). ClinVar contains an entry for this variant (Variation ID: 1015409). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 676 of the SDCCAG8 protein (p.Gln676Glu).

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