ClinVar Miner

Submissions for variant NC_000016.9:g.(?_136684)_(162794_?)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 RCV001031102 SCV001194408 pathogenic Epilepsy, familial focal, with variable foci 3 2021-08-04 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 6-14 of the NPRL3 gene. The 5' boundary is likely confined to intron 5. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. This variant has not been reported in the literature in individuals affected with NPRL3-related conditions. This variant disrupts a region of the NPRL3 protein in which other variant(s) (p.Glu508Argfs*46) have been determined to be pathogenic (PMID: 26786403). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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