ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.2687A>C (p.Glu896Ala)

dbSNP: rs1553838206
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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 RCV000636957 SCV000758405 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2017-12-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with alanine at codon 896 of the CC2D2A protein (p.Glu896Ala). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and alanine. 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: "Possibly 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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