ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.1165C>A (p.Gln389Lys)

gnomAD frequency: 0.00001  dbSNP: rs1331117963
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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 RCV000690320 SCV000818002 uncertain significance Epilepsy, familial focal, with variable foci 3 2018-01-20 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, Align-GVGD) suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with NPRL3-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with lysine at codon 389 of the NPRL3 protein (p.Gln389Lys). The glutamine residue is moderately conserved and there is a small physicochemical difference between gluatmine and lysine.

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