Submissions for variant NM_001195263.2(PDZD7):c.2319_2336del (p.773_774RS[3])

dbSNP: rs397516634

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037101	SCV000060758	likely benign	not specified	2013-03-09	criteria provided, single submitter	clinical testing	The Arg779_Ser784del variant in PDZD7 has not been reported in the literature no r previously identified by our laboratory.The frequency of this variant in large European American and African American populations sequenced by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/) was not reported becaus e coverage at this position was insufficient or unavailable. This in-frame delet ion lies in a variable Arg-Ser repeat region that is not conserved in species in cluding other primates. Furthermore, there is inconclusive evidence as to the ro le of the PDZD7 gene in hearing loss with only one case report suggesting PDZD7 could cause nonsyndromic hearing loss based upon a patient with a homozygous tra nslocation that disrupts the long alternate isoform of PDZD7 (Schneider 2009). I n summary, this variant is likely benign based on its presence in a variable rep eat region, lack of conservation across species, and limited evidence supporting a role of PDZD7 in hearing loss.
Eurofins Ntd Llc (ga)	RCV000037101	SCV000226255	likely benign	not specified	2015-02-20	criteria provided, single submitter	clinical testing
Invitae	RCV000971055	SCV001118671	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000971055	SCV001144894	likely benign	not provided	2018-11-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000971055	SCV001837659	benign	not provided	2019-09-13	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27068579)
CeGaT Center for Human Genetics Tuebingen	RCV000971055	SCV004010008	benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	PDZD7: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003982858	SCV004796070	benign	PDZD7-related condition	2020-11-30	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).