ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.1628T>C (p.Leu543Pro)

dbSNP: rs2141894824
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001938535 SCV002189137 uncertain significance Epilepsy, familial focal, with variable foci 3 2021-12-06 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. 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 leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 543 of the NPRL3 protein (p.Leu543Pro).

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