ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.302_310del (p.Thr101_Ser103del)

dbSNP: rs793888533
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000172935 SCV000223984 pathogenic not provided 2015-02-12 criteria provided, single submitter clinical testing c.302_310delCTCTCTCCA: p.Thr101_Ser103del in exon 1 in the PURA gene (NM_005859.4). The normal sequence with the bases that are deleted in braces is: CTTA{CTCTCTCCA}TGTC. The c.302_310delCTCTCTCCA mutation in the PURA gene has not been reported previously as a disease-causing mutation nor as a benign polymorphism, to our knowledge. The c.302_310delCTCTCTCCA mutation was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.302_310delCTCTCTCCA mutation causes an in-frame deletion of three amino acids in exon 1 of the PURA gene; these amino acids are well-conserved across species. We interpret c.302_310delCTCTCTCCA as a disease-causing mutation associated with PURA-related disorders. This variant has been observed de novo with confirmed parentage.
OMIM RCV000201223 SCV000255946 pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2021-08-17 no assertion criteria provided literature only

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