ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.307_308del (p.Ser103fs)

dbSNP: rs587782992
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000149570 SCV000814014 pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2018-05-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A different truncation (p.Asp207Thrfs*16) that lies downstream of this variant has been determined to be pathogenic (Invitae). This suggests that deletion of this region of the PURA protein is causative of disease. This variant has been observed to be de novo in individuals affected with early infantile epileptic encephalopathy (PMID: 25439098). This variant has also been observed in an individual affected with gross motor delay, hypotonia, and seizures (PMID: 28600779). This variant is also known as c.302_303del in the literature. ClinVar contains an entry for this variant (Variation ID: 156404). This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the PURA gene (p.Ser103Hisfs*97). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 221 amino acids of the PURA protein.
Institute of Human Genetics, University of Leipzig Medical Center RCV000149570 SCV004027762 pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2023-07-17 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS2,PS4_MOD,PM2_SUP
Whole genome laboratory; Baylor College of Medicine RCV000144522 SCV000189114 pathogenic Global developmental delay; Delayed speech and language development; Intellectual disability; Neonatal hypotonia 2014-09-15 no assertion criteria provided clinical testing
OMIM RCV000149570 SCV000196546 pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2014-11-06 no assertion criteria provided literature only

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