ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.4151C>T (p.Ala1384Val)

gnomAD frequency: 0.00001  dbSNP: rs768983267
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002038566 SCV002313039 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. ClinVar contains an entry for this variant (Variation ID: 1520196). This variant has not been reported in the literature in individuals affected with CEP250-related conditions. This variant is present in population databases (rs768983267, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1384 of the CEP250 protein (p.Ala1384Val).

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