ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.155C>A (p.Ala52Glu)

gnomAD frequency: 0.00002  dbSNP: rs747055547
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001955298 SCV002215095 uncertain significance Nephronophthisis 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with glutamic acid at codon 52 of the NPHP3 protein (p.Ala52Glu). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and glutamic acid. This variant is present in population databases (rs747055547, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with NPHP3-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: "Benign"; 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.
GeneDx RCV004779211 SCV005390708 uncertain significance not provided 2024-03-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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