ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.74G>T (p.Arg25Met)

dbSNP: rs1901209994
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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 RCV001066821 SCV001231841 uncertain significance Epilepsy, familial focal, with variable foci 3 2020-02-21 criteria provided, single submitter clinical testing 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. 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: "Tolerated"; PolyPhen-2: "Probably damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with NPRL3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with methionine at codon 25 of the NPRL3 protein (p.Arg25Met). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and methionine.
PreventionGenetics, part of Exact Sciences RCV004547973 SCV004796875 uncertain significance NPRL3-related disorder 2024-02-16 no assertion criteria provided clinical testing The NPRL3 c.74G>T variant is predicted to result in the amino acid substitution p.Arg25Met. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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