ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.1073C>T (p.Ser358Phe)

gnomAD frequency: 0.00001  dbSNP: rs1039004556
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558878 SCV000656687 uncertain significance Epilepsy, familial focal, with variable foci 3 2022-03-19 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. ClinVar contains an entry for this variant (Variation ID: 476214). This variant has not been reported in the literature in individuals affected with NPRL3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 358 of the NPRL3 protein (p.Ser358Phe).

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