ClinVar Miner

Submissions for variant NC_000005.10:g.(?_140114162)_(140115170_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001031664 SCV001194970 pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2021-08-04 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the PURA gene has been identified. Loss-of-function variants in PURA are known to be pathogenic (PMID: 29097605). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. Isolated whole-gene deletions of PURA have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 23950017, 29619234). For these reasons, this variant has been classified as Pathogenic.

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