ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.968G>A (p.Arg323Lys)

gnomAD frequency: 0.00005  dbSNP: rs576672580
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001239021 SCV001411866 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 323 of the SDCCAG8 protein (p.Arg323Lys). This variant is present in population databases (rs576672580, 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: 964740). 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 RCV001239021 SCV002788448 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-05-31 criteria provided, single submitter clinical testing

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