ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.301C>T (p.Gln101Ter)

dbSNP: rs1596528731
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989406 SCV001139726 likely pathogenic Epilepsy, familial focal, with variable foci 3 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000989406 SCV002228288 pathogenic Epilepsy, familial focal, with variable foci 3 2021-04-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln101*) 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). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with NPRL3-related conditions (PMID: 30093711). ClinVar contains an entry for this variant (Variation ID: 803143). This variant is not present in population databases (ExAC no frequency).

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