ClinVar Miner

Submissions for variant NM_006545.5(NPRL2):c.661C>T (p.Arg221Cys)

gnomAD frequency: 0.00001  dbSNP: rs751736902
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV001644556 SCV001852737 uncertain significance Epilepsy, familial focal, with variable foci 2 2021-04-08 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 6 of the NPRL2 gene that results in the amino acid substitution of Cysteine for Arginine at codon 221 was detected. The observed variant c.661C>T (p.Arg221Cys) has a minor allele frequency of 0.0007% and 0.014% in the 1000 genomes and gnomAD databases, respectively. The in silico prediction of the variant are probably damaging by PolyPhen-2 (HumDiv), damaging by SIFT, LRT and MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.
Revvity Omics, Revvity RCV001644556 SCV003816082 uncertain significance Epilepsy, familial focal, with variable foci 2 2021-01-28 criteria provided, single submitter clinical testing

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