ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1642A>C (p.Ser548Arg)

gnomAD frequency: 0.00001  dbSNP: rs1388276184
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001368353 SCV001564747 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2021-02-22 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 548 of the SDCCAG8 protein (p.Ser548Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine. 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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).
Fulgent Genetics, Fulgent Genetics RCV001368353 SCV002777424 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2021-12-27 criteria provided, single submitter clinical testing

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