ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.286C>T (p.His96Tyr)

gnomAD frequency: 0.00004  dbSNP: rs374486402
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001057376 SCV001221864 uncertain significance Epilepsy, familial focal, with variable foci 3 2022-07-19 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: 852709). This variant has not been reported in the literature in individuals affected with NPRL3-related conditions. This variant is present in population databases (rs374486402, gnomAD 0.01%). This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 96 of the NPRL3 protein (p.His96Tyr).
GeneDx RCV001772272 SCV002001283 uncertain significance not provided 2021-07-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)

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