ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.2575A>G (p.Lys859Glu)

dbSNP: rs770990150
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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 RCV001947113 SCV002135148 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-08-06 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 859 of the CC2D2A protein (p.Lys859Glu). This variant is present in population databases (rs770990150, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of inherited retinal dystrophy (Invitae). ClinVar contains an entry for this variant (Variation ID: 1367105). 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: "Benign"; 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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