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

dbSNP: rs1561792945

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000692544	SCV000820371	pathogenic	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	2023-01-15	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 571407). This premature translational stop signal has been observed in individual(s) with clinical features of early infantile epileptic encephalopathy (Invitae). This variant is not present in population databases (gnomAD no frequency). 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.
Baylor Genetics	RCV000692544	SCV004041108	pathogenic	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	2023-01-15	criteria provided, single submitter	clinical testing
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