ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.2830G>A (p.Val944Ile) (rs188262700)

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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 RCV000597571 SCV000709288 uncertain significance not provided 2017-12-13 criteria provided, single submitter clinical testing
Invitae RCV001050429 SCV001214536 uncertain significance Nephronophthisis 2019-10-24 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 944 of the NPHP4 protein (p.Val944Ile). The valine residue is weakly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs188262700, ExAC 0.01%). This variant has not been reported in the literature in individuals with NPHP4-related conditions. ClinVar contains an entry for this variant (Variation ID: 502514). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine 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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