ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.4082G>C (p.Arg1361Pro)

dbSNP: rs148987415
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001307666 SCV001497087 uncertain significance Nephronophthisis 15 2020-07-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CEP164-related conditions. This sequence change replaces arginine with proline at codon 1361 of the CEP164 protein (p.Arg1361Pro). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and proline. This variant is present in population databases (rs148987415, ExAC 0.009%). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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