ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.767+1G>T

dbSNP: rs1567134495
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703657 SCV000832567 pathogenic Epilepsy, familial focal, with variable foci 3 2023-11-27 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 8 of the NPRL3 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and 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). Disruption of this splice site has been observed in individual(s) with clinical features of NPRL3-related conditions (PMID: 31440721; Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 580189). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Diagnostic Laboratory, Strasbourg University Hospital RCV002275119 SCV002562825 likely pathogenic Seizure no assertion criteria provided clinical testing

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