ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.152C>T (p.Ser51Phe)

dbSNP: rs2067973932
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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 RCV001926077 SCV002192852 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2021-09-18 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 51 of the SDCCAG8 protein (p.Ser51Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. 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: "Probably Damaging"; 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.
PreventionGenetics, part of Exact Sciences RCV004734347 SCV005358271 uncertain significance SDCCAG8-related disorder 2024-08-14 no assertion criteria provided clinical testing The SDCCAG8 c.152C>T variant is predicted to result in the amino acid substitution p.Ser51Phe. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. 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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