ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.1260T>G (p.Cys420Trp)

dbSNP: rs751436798
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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 RCV000690006 SCV000817682 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2018-03-02 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tryptophan at codon 420 of the CC2D2A protein (p.Cys420Trp). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CC2D2A-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: "Deleterious"; PolyPhen-2: "Probably 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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