ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.1174C>T (p.Gln392Ter)

dbSNP: rs2141902592
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001385427 SCV001585264 pathogenic Epilepsy, familial focal, with variable foci 3 2022-06-04 criteria provided, single submitter clinical testing 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.Gln392*) in the NPRL3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NPRL3 are known to be pathogenic (PMID: 26285051, 26505888). ClinVar contains an entry for this variant (Variation ID: 1072659). For these reasons, this variant has been classified as Pathogenic.

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