ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.1085C>T (p.Pro362Leu)

gnomAD frequency: 0.00005  dbSNP: rs763923760
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001203391 SCV001374554 uncertain significance Epilepsy, familial focal, with variable foci 3 2022-12-02 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 362 of the NPRL3 protein (p.Pro362Leu). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt NPRL3 protein function. ClinVar contains an entry for this variant (Variation ID: 934907). This variant has not been reported in the literature in individuals affected with NPRL3-related conditions. This variant is present in population databases (rs763923760, gnomAD 0.01%).
CeGaT Center for Human Genetics Tuebingen RCV003393880 SCV004131647 uncertain significance not provided 2022-09-01 criteria provided, single submitter clinical testing

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