Submissions for variant NM_005859.5(PURA):c.720C>G (p.Tyr240Ter)

dbSNP: rs1763053854

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001232985	SCV001405561	pathogenic	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	2019-09-27	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with clinical features of PURA-related conditions (PMID: Invitae). In at least one individual the variant was observed to be de novo. 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.Tyr240*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 83 amino acids of the PURA protein.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	RCV002252338	SCV002523231	likely pathogenic	See cases	2019-08-21	criteria provided, single submitter	clinical testing	ACMG classification criteria: PVS1, PM2
Obstetrics & Gynecology, Peking Union Medical College Hospital	RCV003232254	SCV003930282	pathogenic	PURA Syndrome		no assertion criteria provided	clinical testing