ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.653G>A (p.Arg218Gln)

gnomAD frequency: 0.00006  dbSNP: rs201341279
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001216485 SCV001388285 uncertain significance Epilepsy, familial focal, with variable foci 3 2024-01-26 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 218 of the NPRL3 protein (p.Arg218Gln). This variant is present in population databases (rs201341279, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with NPRL3-related conditions. ClinVar contains an entry for this variant (Variation ID: 945767). 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 NPRL3 protein function with a negative predictive value of 80%. 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 RCV001551471 SCV001771988 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing

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