ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1273G>T (p.Val425Phe)

dbSNP: rs370072966
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001903833 SCV002173628 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 425 of the SDCCAG8 protein (p.Val425Phe). This variant is present in population databases (rs370072966, gnomAD 0.03%). 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: 1405473). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
GeneDx RCV002557585 SCV003194759 uncertain significance not provided 2022-07-20 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
PreventionGenetics, part of Exact Sciences RCV004529042 SCV004105364 uncertain significance SDCCAG8-related disorder 2023-12-07 criteria provided, single submitter clinical testing The SDCCAG8 c.1273G>T variant is predicted to result in the amino acid substitution p.Val425Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.034% 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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