ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.244C>T (p.Arg82Cys)

gnomAD frequency: 0.00009  dbSNP: rs143447584
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436103 SCV000535964 uncertain significance not provided 2023-05-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001346705 SCV001540929 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2023-08-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 82 of the SDCCAG8 protein (p.Arg82Cys). 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. 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. ClinVar contains an entry for this variant (Variation ID: 392659). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. This variant is present in population databases (rs143447584, gnomAD 0.02%).
Fulgent Genetics, Fulgent Genetics RCV001346705 SCV002801364 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-02-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003343829 SCV004052773 uncertain significance Inborn genetic diseases 2023-06-21 criteria provided, single submitter clinical testing The c.244C>T (p.R82C) alteration is located in exon 3 (coding exon 3) of the SDCCAG8 gene. This alteration results from a C to T substitution at nucleotide position 244, causing the arginine (R) at amino acid position 82 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004533135 SCV004750693 uncertain significance SDCCAG8-related disorder 2023-12-05 criteria provided, single submitter clinical testing The SDCCAG8 c.244C>T variant is predicted to result in the amino acid substitution p.Arg82Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of Latino descent in gnomAD. 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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