ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.2891A>G (p.His964Arg)

gnomAD frequency: 0.00001  dbSNP: rs1273769297
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592290 SCV000708006 uncertain significance not provided 2017-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532603 SCV002932768 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-03-20 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 964 of the CC2D2A protein (p.His964Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CC2D2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 501585). 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 tolerated. 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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