ClinVar Miner

Submissions for variant NC_000016.9:g.(?_136704)_(136889_?)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 RCV002014454 SCV002306337 uncertain significance Epilepsy, familial focal, with variable foci 3 2023-07-02 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant disrupts the C-terminus of the NPRL3 protein. Other variant(s) that disrupt this region (p.Tyr519*) have been observed in individuals with NPRL3-related conditions (PMID: 30093711). This suggests that this may be a clinically significant region of the protein. This variant has not been reported in the literature in individuals affected with NPRL3-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 14 of the NPRL3 gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore 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.

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