ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.3434A>G (p.Lys1145Arg) (rs923103631)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727916 SCV000855425 uncertain significance not provided 2018-02-02 criteria provided, single submitter clinical testing
Invitae RCV001044786 SCV001208601 uncertain significance Nephronophthisis 2019-09-28 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 1145 of the NPHP4 protein (p.Lys1145Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NPHP4-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably 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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