ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.280T>A (p.Ser94Thr)

gnomAD frequency: 0.00005  dbSNP: rs776810375
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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 RCV001988796 SCV002283793 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 94 of the SDCCAG8 protein (p.Ser94Thr). This variant is present in population databases (rs776810375, gnomAD 0.006%). 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: 1491648). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV004538717 SCV004117431 uncertain significance SDCCAG8-related disorder 2022-10-19 criteria provided, single submitter clinical testing The SDCCAG8 c.280T>A variant is predicted to result in the amino acid substitution p.Ser94Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-243434339-T-A). 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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