Submissions for variant NM_001032382.2(PQBP1):c.393_413del (p.127GHDKSDR[1])

dbSNP: rs782547972

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000325662	SCV000337283	likely benign	not specified	2015-11-12	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000325662	SCV000596574	uncertain significance	not specified	2016-12-27	criteria provided, single submitter	clinical testing
GeneDx	RCV001683156	SCV001898172	benign	not provided	2020-03-25	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 16493439)
Ambry Genetics	RCV002518940	SCV003701385	uncertain significance	Inborn genetic diseases	2021-01-29	criteria provided, single submitter	clinical testing	The c.393_413del21 (p.G134_R140del) alteration is located in exon 5 (coding exon 4) of the PQBP1 gene. This alteration consists of an in-frame deletion of 21 nucleotides between nucleotide positions c.393 and c.413, resulting in the deletion of 7 residues. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001683156	SCV004375719	benign	not provided	2024-01-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003897611	SCV004712293	likely benign	PQBP1-related disorder	2020-11-02	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).