Submissions for variant NM_014956.5(CEP164):c.4330C>G (p.Leu1444Val)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001055918	SCV001220333	uncertain significance	Nephronophthisis 15	2019-12-11	criteria provided, single submitter	clinical testing	This sequence change replaces leucine with valine at codon 1444 of the CEP164 protein (p.Leu1444Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. This variant is present in population databases (rs143919649, ExAC 0.03%). This variant has not been reported in the literature in individuals with CEP164-related conditions. 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: "Possibly Damaging"; 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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