Submissions for variant NM_176787.5(PIGN):c.1617T>C (p.Tyr539=)

gnomAD frequency: 0.00282  dbSNP: rs147306123

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001083238	SCV000651211	benign	Multiple congenital anomalies-hypotonia-seizures syndrome 1	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000712544	SCV000843059	benign	not provided	2018-03-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311868	SCV000847277	likely benign	Inborn genetic diseases	2016-07-24	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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	RCV000712544	SCV001335079	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	PIGN: BP4, BP7
GeneDx	RCV000712544	SCV001794023	likely benign	not provided	2020-10-13	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003905428	SCV004720773	likely benign	PIGN-related condition	2019-06-28	criteria provided, single submitter	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).