ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.1648G>A (p.Val550Met)

dbSNP: rs188724206
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001055982 SCV001220398 uncertain significance Epilepsy, familial focal, with variable foci 3 2023-10-12 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 550 of the NPRL3 protein (p.Val550Met). This variant is present in population databases (rs188724206, gnomAD 0.01%). 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: 851562). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on NPRL3 protein function. 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.
Illumina Laboratory Services, Illumina RCV001055982 SCV001451646 uncertain significance Epilepsy, familial focal, with variable foci 3 2020-08-05 criteria provided, single submitter clinical testing The NPRL3 c.1648G>A (p.Val550Met) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database and is in a region of good sequence coverage, so the variant is presumed to be rare. This amino acid position is highly conserved. Based on the limited evidence, the p.Val550Met variant is classified as a variant of uncertain significance for familial focal epilepsy with variable foci.
CeGaT Center for Human Genetics Tuebingen RCV001815466 SCV002063455 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing

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