Submissions for variant NM_001032382.2(PQBP1):c.640dup (p.Arg214fs)

dbSNP: rs606231196

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Baylor Genetics	RCV000011729	SCV000245528	pathogenic	Renpenning syndrome	2013-02-05	criteria provided, single submitter	clinical testing	This variant has been previously reported as disease-causing and was found once in our laboratory maternally inherited in a 40-year-old male with intellectual disability, autism, dysmorphic features, strabismus
GeneDx	RCV000599325	SCV000709914	pathogenic	not provided	2024-08-29	criteria provided, single submitter	clinical testing	Published functional studies demonstrate a damaging effect: loss of the YxxPxxVL motif that is essential for binding with the spliceosomal protein U5-15kD (PMID: 24781215); Frameshift variant predicted to result in protein truncation, as the last 52 amino acids are replaced with 12 different amino acids, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (HGMD); Not observed at significant frequency in large population cohorts (gnomAD); Also known as c.641insC; This variant is associated with the following publications: (PMID: 9545405, 26633545, 24781215, 27535533, 15024694, 24077912)
CeGaT Center for Human Genetics Tuebingen	RCV000599325	SCV001501106	pathogenic	not provided	2021-06-01	criteria provided, single submitter	clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	RCV000011729	SCV002525442	pathogenic	Renpenning syndrome		criteria provided, single submitter	research
OMIM	RCV000011729	SCV000031961	pathogenic	Renpenning syndrome	2004-04-01	no assertion criteria provided	literature only