Submissions for variant NM_014956.5(CEP164):c.2195C>T (p.Ser732Leu)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001235555	SCV001408246	uncertain significance	Nephronophthisis 15	2019-08-22	criteria provided, single submitter	clinical testing	This sequence change replaces serine with leucine at codon 732 of the CEP164 protein (p.Ser732Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs559070007, ExAC 0.01%). This variant has not been reported in the literature in individuals with CEP164-related disease. 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 leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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