ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.2105G>A (p.Arg702Gln)

dbSNP: rs889394540
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592430 SCV000707777 uncertain significance not provided 2017-04-11 criteria provided, single submitter clinical testing
Invitae RCV003586197 SCV004332425 uncertain significance Nephronophthisis 2023-04-27 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 702 of the NPHP3 protein (p.Arg702Gln). This variant has not been reported in the literature in individuals affected with NPHP3-related conditions. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt NPHP3 protein function. ClinVar contains an entry for this variant (Variation ID: 501427).

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