ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.947T>C (p.Met316Thr)

gnomAD frequency: 0.00019  dbSNP: rs200461035
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001051379 SCV001215531 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 316 of the SDCCAG8 protein (p.Met316Thr). This variant is present in population databases (rs200461035, gnomAD 0.08%). 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: 847765). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SDCCAG8 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.
Fulgent Genetics, Fulgent Genetics RCV001051379 SCV002775182 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-05-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003413853 SCV004114916 uncertain significance SDCCAG8-related condition 2023-04-21 criteria provided, single submitter clinical testing The SDCCAG8 c.947T>C variant is predicted to result in the amino acid substitution p.Met316Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.076% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-243480074-T-C). Although we suspect this variant may be benign, 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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