ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.4852C>T (p.Arg1618Cys) (rs201219078)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000765763 SCV000897151 uncertain significance COACH syndrome; Meckel syndrome type 6; Joubert syndrome 9 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000233494 SCV000285836 uncertain significance Joubert syndrome; Meckel-Gruber syndrome 2016-01-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 1618 of the CC2D2A protein (p.Arg1618Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs201219078, ExAC 0.05%) but has not been reported in the literature in individuals with a CC2D2A-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In summary, this is a rare missense change with uncertain impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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