ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.4541G>A (p.Arg1514His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000734402 SCV000862541 uncertain significance not provided 2018-07-19 criteria provided, single submitter clinical testing
Invitae RCV000698859 SCV000827548 uncertain significance Joubert syndrome; Meckel-Gruber syndrome 2018-07-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 1514 of the CC2D2A protein (p.Arg1514His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs368191427, ExAC 0.01%). This variant has not been reported in the literature in individuals with CC2D2A-related disease. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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