Submissions for variant NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser)

gnomAD frequency: 0.00037  dbSNP: rs142896669

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000226902	SCV000283530	likely benign	Hereditary hemorrhagic telangiectasia	2024-01-24	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000454429	SCV000539100	uncertain significance	not specified	2016-04-25	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 2 probands, no segs in HGMD; ExAC: 0.2% (25/11560) Latino chromosomes
Wendy Chung Laboratory, Columbia University Medical Center	RCV000664173	SCV000784732	uncertain significance	Pulmonary arterial hypertension associated with congenital heart disease	2018-06-27	criteria provided, single submitter	case-control
Illumina Laboratory Services, Illumina	RCV001166478	SCV001328859	benign	Telangiectasia, hereditary hemorrhagic, type 1	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV002225526	SCV002504123	likely benign	not provided	2020-10-01	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Ambry Genetics	RCV002399808	SCV002704491	likely benign	Cardiovascular phenotype	2017-01-03	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.
Rare Disease Genomics Group, St George's University of London	RCV000488732	SCV000576357	pathogenic	Pulmonary hypertension, primary, 1		no assertion criteria provided	literature only