Submissions for variant NM_001114753.3(ENG):c.7C>T (p.Arg3Cys)

gnomAD frequency: 0.00024  dbSNP: rs139334561

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001034662	SCV000546111	likely benign	Hereditary hemorrhagic telangiectasia	2024-12-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000488039	SCV000575593	uncertain significance	not provided	2016-11-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000415646	SCV001332251	likely benign	Telangiectasia, hereditary hemorrhagic, type 1	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
NIHR Bioresource Rare Diseases, University of Cambridge	RCV000415646	SCV001439459	likely benign	Telangiectasia, hereditary hemorrhagic, type 1	2018-01-01	criteria provided, single submitter	research	BS1 +BP2
GeneDx	RCV000488039	SCV001816344	uncertain significance	not provided	2020-08-28	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 15312062, 25312062)
Genetic Services Laboratory, University of Chicago	RCV001821144	SCV002071541	uncertain significance	not specified	2019-03-08	criteria provided, single submitter	clinical testing
Johns Hopkins Genomics, Johns Hopkins University	RCV000415646	SCV002570269	likely benign	Telangiectasia, hereditary hemorrhagic, type 1	2022-04-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002418240	SCV002678760	benign	Cardiovascular phenotype	2022-01-11	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Knight Diagnostic Laboratories, Oregon Health and Sciences University	RCV000415646	SCV000493740	uncertain significance	Telangiectasia, hereditary hemorrhagic, type 1	2016-01-27	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003950330	SCV004757422	likely benign	ENG-related disorder	2022-05-11	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).