ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.159C>T (p.Cys53=)

gnomAD frequency: 0.00056  dbSNP: rs148475405
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000858458 SCV000283529 benign Hereditary hemorrhagic telangiectasia 2024-01-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000233208 SCV000477359 likely benign Telangiectasia, hereditary hemorrhagic, type 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001640379 SCV001859221 benign not provided 2019-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399807 SCV002707838 benign Cardiovascular phenotype 2015-05-22 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.
PreventionGenetics, part of Exact Sciences RCV003907846 SCV004719360 likely benign ENG-related disorder 2019-03-20 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).

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