ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.1561del (p.Arg521fs)

dbSNP: rs1596492194
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000807114 SCV000947151 uncertain significance Epilepsy, familial focal, with variable foci 3 2023-08-02 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 651702). This variant has not been reported in the literature in individuals affected with NPRL3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg521Alafs*33) in the NPRL3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 49 amino acid(s) of the NPRL3 protein.

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