ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.3704C>T (p.Ala1235Val)

gnomAD frequency: 0.00001  dbSNP: rs746352904
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001041893 SCV001205544 uncertain significance not provided 2019-12-31 criteria provided, single submitter clinical testing 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: "Possibly Damaging"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals with CEP250-related conditions. This variant is present in population databases (rs746352904, ExAC 0.003%). This sequence change replaces alanine with valine at codon 1235 of the CEP250 protein (p.Ala1235Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine.

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