ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.392C>T (p.Pro131Leu) (rs139398993)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER _CC_NCGL, University of Washington RCV000148486 SCV000190189 uncertain significance Haemorrhagic telangiectasia 1 2014-06-01 criteria provided, single submitter research Low GERP score may suggest that this variant may belong in a lower pathogenicity class
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000178045 SCV000230031 benign not specified 2015-02-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346221 SCV000477348 benign Hereditary hemorrhagic telangiectasia type 1 2018-03-06 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000857942 SCV000557862 benign Hereditary hemorrhagic telangiectasia 2020-12-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000178045 SCV000594548 likely benign not specified 2016-08-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000346221 SCV001156616 benign Hereditary hemorrhagic telangiectasia type 1 2020-08-21 criteria provided, single submitter clinical testing
Broad Institute Rare Disease Group, Broad Institute RCV001258238 SCV001435144 benign Galloway-Mowat syndrome 1 criteria provided, single submitter research The heterozygous p.Pro131Leu variant in ENG has been identified in multiple individuals with haemorrhagic telangiectasia and individuals without haemorrhagic telangiectasia (PMID: 15879500, 21158752), and has been identified in >2% of South Asian chromosomes and 7 homozygotes by ExAC ( In summary, this variant meets criteria to be classified as benign for autosomal dominant haemorrhagic telangiectasia.

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