ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.2041T>A (p.Ser681Thr)

gnomAD frequency: 0.00001  dbSNP: rs769428879
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001242160 SCV001415230 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-10-21 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 681 of the CC2D2A protein (p.Ser681Thr). The serine residue is moderately conserved and there is a small physicochemical difference between serine and threonine. This variant is present in population databases (rs769428879, ExAC 0.04%). 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 (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.
GeneDx RCV002274156 SCV002559399 uncertain significance not provided 2022-02-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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