ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.1669G>A (p.Glu557Lys)

gnomAD frequency: 0.00001  dbSNP: rs764005661
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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 RCV001058037 SCV001222573 uncertain significance Epilepsy, familial focal, with variable foci 3 2023-08-27 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. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 557 of the NPRL3 protein (p.Glu557Lys). This variant is present in population databases (rs764005661, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with NPRL3-related conditions. ClinVar contains an entry for this variant (Variation ID: 853258). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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