ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.4835A>G (p.Tyr1612Cys)

dbSNP: rs368070611
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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 RCV001352404 SCV001546956 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-09-07 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 1612 of the CC2D2A protein (p.Tyr1612Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs368070611, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with CC2D2A-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or 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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