ClinVar Miner

Submissions for variant NM_025114.3:c.5083G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000800555 SCV000940279 uncertain significance Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2018-12-24 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with tyrosine at codon 1695 of the CEP290 protein (p.Asp1695Tyr). The aspartic acid residue is weakly conserved and there is a large physicochemical difference between aspartic acid and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CEP290-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, 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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