ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.3434C>T (p.Ala1145Val)

gnomAD frequency: 0.00002  dbSNP: rs770370539
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001067888 SCV001232970 uncertain significance Nephronophthisis 15 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1145 of the CEP164 protein (p.Ala1145Val). This variant is present in population databases (rs770370539, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with CEP164-related conditions. ClinVar contains an entry for this variant (Variation ID: 861374). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". 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.

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