ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1945T>C (p.Cys649Arg)

gnomAD frequency: 0.00003  dbSNP: rs371805116
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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 RCV002042813 SCV002292127 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2024-11-11 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 649 of the SDCCAG8 protein (p.Cys649Arg). This variant is present in population databases (rs371805116, gnomAD 0.008%). 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: 1501442). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt SDCCAG8 protein function with a positive predictive value of 80%. 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.
Ambry Genetics RCV003382793 SCV004089735 uncertain significance Inborn genetic diseases 2023-08-10 criteria provided, single submitter clinical testing The c.1945T>C (p.C649R) alteration is located in exon 16 (coding exon 16) of the SDCCAG8 gene. This alteration results from a T to C substitution at nucleotide position 1945, causing the cysteine (C) at amino acid position 649 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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