ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1646T>C (p.Phe549Ser)

dbSNP: rs2080530513
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001327212 SCV001518274 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2020-10-27 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. 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"). This variant has not been reported in the literature in individuals with SDCCAG8-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with serine at codon 549 of the SDCCAG8 protein (p.Phe549Ser). The phenylalanine residue is moderately conserved and there is a large physicochemical difference between phenylalanine and serine.

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