ClinVar Miner

Submissions for variant NM_006545.5(NPRL2):c.562C>T (p.Gln188Ter)

dbSNP: rs2109365845
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002266638 SCV002548675 likely pathogenic Epilepsy, familial focal, with variable foci 2 2021-07-09 criteria provided, single submitter clinical testing The c.562C>T (p.Gln188Ter) variant identified in the NPRL2 gene is a single nucleotide variant resulting in the premature termination of the protein at amino acid 188/381 (exon 5/11). This variant is absent from gnomAD(v3.1.1) suggesting it is not a common benign variant in the populations represented in that database. This variant is absent from ClinVar and to our current knowledge has not been reported in affected individuals in the literature, although nonsense and frameshift variants downstream of the one reported here have been identified [PMID:26505888]. Given its deleterious nature and absence in population databases,the c.562C>T (p.Gln188Ter) variant identified in the NPRL2 gene is reported as Likely Pathogenic.

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