ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.898C>T (p.Gln300Ter)

dbSNP: rs746975723
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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 RCV001972619 SCV002238349 pathogenic Epilepsy, familial focal, with variable foci 3 2022-10-15 criteria provided, single submitter clinical testing 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: 1457332). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln300*) 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).
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV001972619 SCV002764811 likely pathogenic Epilepsy, familial focal, with variable foci 3 2021-10-15 criteria provided, single submitter clinical testing

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