ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.2812G>C (p.Val938Leu)

dbSNP: rs184961418
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001247440 SCV001420862 uncertain significance Nephronophthisis 2022-10-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with NPHP4-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 NPHP4 protein function. ClinVar contains an entry for this variant (Variation ID: 971619). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 938 of the NPHP4 protein (p.Val938Leu).
Fulgent Genetics, Fulgent Genetics RCV002484389 SCV002785763 uncertain significance Nephronophthisis 4; Senior-Loken syndrome 4 2022-01-27 criteria provided, single submitter clinical testing

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