Submissions for variant NM_018026.4(PACS1):c.2358G>A (p.Ser786=)

gnomAD frequency: 0.00017  dbSNP: rs200716334

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000503911	SCV000596189	likely benign	not specified	2017-03-13	criteria provided, single submitter	clinical testing
GeneDx	RCV000960420	SCV001813370	likely benign	not provided	2019-08-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002056862	SCV002458994	likely benign	Schuurs-Hoeijmakers syndrome	2024-12-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002446979	SCV002734489	likely benign	Inborn genetic diseases	2017-07-19	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV000960420	SCV004136961	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	PACS1: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003925480	SCV004739369	likely benign	PACS1-related disorder	2024-01-03	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).