ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.10C>T (p.Arg4Ter)

dbSNP: rs1561792945
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000692544 SCV000820371 pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2023-01-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg4*) in the PURA gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 319 amino acid(s) of the PURA protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of early infantile epileptic encephalopathy (Invitae). ClinVar contains an entry for this variant (Variation ID: 571407). This variant disrupts a region of the PURA protein in which other variant(s) (p.Tyr261*) have been determined to be pathogenic (PMID: 25439098). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000692544 SCV004041108 pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2023-01-15 criteria provided, single submitter clinical testing
GeneDx RCV004760716 SCV005373293 pathogenic not provided 2024-04-04 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation, as the last 319 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34070668, 31440721, 36376392)
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000692544 SCV001499896 pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome no assertion criteria provided clinical testing

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