ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.916G>A (p.Glu306Lys) (rs777002036)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531568 SCV000655042 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2017-03-03 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 306 of the SDCCAG8 protein (p.Glu306Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs777002036, ExAC 0.08%) but has not been reported in the literature in individuals with an SDCCAG8-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. Because it is found in the population at an appreciable frequency, this variant is not anticipated to cause disease. However, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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