Submissions for variant NM_006642.5(SDCCAG8):c.233A>G (p.Lys78Arg)

gnomAD frequency: 0.00006  dbSNP: rs750977682

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001203309	SCV001374466	uncertain significance	Senior-Loken syndrome 7; Bardet-Biedl syndrome 16	2023-05-01	criteria provided, single submitter	clinical testing	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: 934835). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. This variant is present in population databases (rs750977682, gnomAD 0.009%). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 78 of the SDCCAG8 protein (p.Lys78Arg).
PreventionGenetics, part of Exact Sciences	RCV004538441	SCV004107376	uncertain significance	SDCCAG8-related disorder	2024-01-02	criteria provided, single submitter	clinical testing	The SDCCAG8 c.233A>G variant is predicted to result in the amino acid substitution p.Lys78Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% 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.