ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.3040_3041delinsGG (p.Leu1014Gly)

dbSNP: rs2109065185
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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 RCV001886506 SCV002153019 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 1014 of the CC2D2A protein (p.Leu1014Gly). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. 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: 1380947). 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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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