ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.747A>T (p.Glu249Asp)

dbSNP: rs2141925147
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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 RCV001922020 SCV002148621 uncertain significance Epilepsy, familial focal, with variable foci 3 2021-05-16 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 249 of the NPRL3 protein (p.Glu249Asp). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NPRL3-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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