ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.476G>A (p.Arg159His)

gnomAD frequency: 0.00001  dbSNP: rs370299128
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000699349 SCV000828055 uncertain significance Epilepsy, familial focal, with variable foci 3 2022-07-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 159 of the NPRL3 protein (p.Arg159His). 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. ClinVar contains an entry for this variant (Variation ID: 576773). This variant has not been reported in the literature in individuals affected with NPRL3-related conditions. This variant is present in population databases (rs370299128, gnomAD 0.003%).
Ambry Genetics RCV004958026 SCV005464434 uncertain significance Inborn genetic diseases 2024-08-27 criteria provided, single submitter clinical testing The c.476G>A (p.R159H) alteration is located in exon 6 (coding exon 5) of the NPRL3 gene. This alteration results from a G to A substitution at nucleotide position 476, causing the arginine (R) at amino acid position 159 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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