ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.1514_1518delinsTTCTGGGGCT (p.Gln505fs)

dbSNP: rs1555439541
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000653298 SCV000775177 pathogenic Epilepsy, familial focal, with variable foci 3 2022-10-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the NPRL3 protein in which other variant(s) (p.Glu508Argfs*46) have been determined to be pathogenic (PMID: 26786403). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with NPRL3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln505Leufs*51) in the NPRL3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 65 amino acid(s) of the NPRL3 protein.

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