ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.1003A>T (p.Met335Leu)

dbSNP: rs1405349026
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043682 SCV001207440 uncertain significance Epilepsy, familial focal, with variable foci 3 2022-07-05 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: 841458). 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 replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 335 of the NPRL3 protein (p.Met335Leu).
GeneDx RCV001772238 SCV001994244 uncertain significance not provided 2019-07-05 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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