ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.349del (p.Glu117fs)

dbSNP: rs1900088045
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001067555 SCV001232622 pathogenic Epilepsy, familial focal, with variable foci 3 2023-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu117Lysfs*5) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with nonlesional generalized epilepsy (PMID: 28726809). ClinVar contains an entry for this variant (Variation ID: 861113). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV003159179 SCV003853120 pathogenic not provided 2024-08-29 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31028937, 28726809, 34926809, 35136953)
OMIM RCV001067555 SCV003841172 pathogenic Epilepsy, familial focal, with variable foci 3 2023-03-02 no assertion criteria provided literature only

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