ClinVar Miner

Submissions for variant NM_006545.5(NPRL2):c.932+1G>A

dbSNP: rs1703621639
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV001267653 SCV001445873 likely pathogenic Epilepsy, familial focal, with variable foci 2 2019-10-04 criteria provided, single submitter clinical testing This variant affects the canonical splice donor site of intron 9 and is therefore predicted to interfere with splicing and result in loss of normal protein function. This variant has not been previously reported or functionally characterized in the literature to our knowledge. It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. Multiple splice prediction tools suggest this variant is likely to interfere with normal splicing. This result was confirmed by Sanger sequencing. Based on the available evidence, the c.932+1G>A variant is classified as Likely Pathogenic.
Mendelics RCV001267653 SCV002517812 pathogenic Epilepsy, familial focal, with variable foci 2 2022-05-04 criteria provided, single submitter clinical testing

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