ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.644del (p.Gly215fs)

dbSNP: rs1899234101
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001217351 SCV001389187 pathogenic Epilepsy, familial focal, with variable foci 3 2019-10-03 criteria provided, single submitter clinical testing Loss-of-function variants in NPRL3 are known to be pathogenic (PMID: 26285051, 26505888). This variant has not been reported in the literature in individuals with NPRL3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly215Alafs*2) in the NPRL3 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.

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