ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.22T>C (p.Ser8Pro)

dbSNP: rs1193390013
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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 RCV001964014 SCV002255565 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-10-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1470091). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 8 of the SDCCAG8 protein (p.Ser8Pro).
Fulgent Genetics, Fulgent Genetics RCV001964014 SCV002775554 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2021-09-20 criteria provided, single submitter clinical testing

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