ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.950C>T (p.Ser317Phe)

gnomAD frequency: 0.00001  dbSNP: rs368258515
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001229512 SCV001401958 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-04-09 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 317 of the SDCCAG8 protein (p.Ser317Phe). This variant is present in population databases (rs368258515, gnomAD 0.005%). 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: 956666). 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"). 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.

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