Submissions for variant NM_001114753.3(ENG):c.388C>T (p.Pro130Ser)

gnomAD frequency: 0.00021  dbSNP: rs199840979

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000473062	SCV000557861	benign	Hereditary hemorrhagic telangiectasia	2024-01-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001167064	SCV001329505	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.
NIHR Bioresource Rare Diseases, University of Cambridge	RCV001167064	SCV001441138	likely benign	Telangiectasia, hereditary hemorrhagic, type 1	2018-01-01	criteria provided, single submitter	research	BS1 +BP2
Ambry Genetics	RCV002367594	SCV002624302	benign	Cardiovascular phenotype	2021-07-16	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.
CeGaT Center for Human Genetics Tuebingen	RCV003221999	SCV003917703	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	ENG: BP4, BS1
PreventionGenetics, part of Exact Sciences	RCV003902675	SCV004718671	likely benign	ENG-related disorder	2021-02-03	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).