ClinVar Miner

Submissions for variant NC_000016.10:g.(?_98125)_(100529_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000810684 SCV000950911 pathogenic Epilepsy, familial focal, with variable foci 3 2023-11-24 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 8-9 of the NPRL3 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. 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 affected with NPRL3-related conditions. For these reasons, this variant has been classified as Pathogenic.

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