ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.6736G>T (p.Val2246Leu)

dbSNP: rs1314267186
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001876690 SCV002124347 uncertain significance not provided 2022-11-22 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 2246 of the CEP250 protein (p.Val2246Leu). The valine residue is weakly conserved and there is a small physicochemical difference between valine and leucine. This variant is not present in population databases (gnomAD no frequency). 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. 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: "Benign"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 1356286). This variant has not been reported in the literature in individuals affected with CEP250-related conditions.

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