ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.1162-4G>C

dbSNP: rs539175375
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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 RCV001918773 SCV002186289 uncertain significance Epilepsy, familial focal, with variable foci 3 2021-05-14 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with NPRL3-related conditions. This variant is present in population databases (rs539175375, ExAC 0.01%). This sequence change falls in intron 11 of the NPRL3 gene. It does not directly change the encoded amino acid sequence of the NPRL3 protein.

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