ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys)

gnomAD frequency: 0.00005  dbSNP: rs764262721
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel, ClinGen RCV002480006 SCV004805874 uncertain significance Telangiectasia, hereditary hemorrhagic, type 1 2024-03-15 reviewed by expert panel curation The NM_001114753.3: c.1711C>T variant in ENG is a missense variant predicted to cause substitution of arginine by cysteine at amino acid 571 (p.Arg571Cys). The highest population minor allele frequency in gnomAD v2.1.1 is 0.0004233 (15/35434 alleles) in the Admixed American population. The computational predictor REVEL gives a score of 0.31, which is neither above nor below the thresholds predicting a damaging or benign impact on ENG function. In summary, this variant meets the criteria to be classified as a variant of uncertain significance for autosomal dominant hereditary hemorrhagic telangiectasia based on the ACMG/AMP criteria applied, as specified by the ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel: None (specification version 1.0.0; 1/4/2024).
Eurofins Ntd Llc (ga) RCV000725125 SCV000334293 uncertain significance not provided 2015-09-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000403112 SCV000539101 uncertain significance not specified 2016-06-23 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: Variant reported in 1 proband with juvenile polyposis
Labcorp Genetics (formerly Invitae), Labcorp RCV001053352 SCV001217610 likely benign Hereditary hemorrhagic telangiectasia 2024-09-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480006 SCV002782117 uncertain significance Telangiectasia, hereditary hemorrhagic, type 1 2021-11-24 criteria provided, single submitter clinical testing

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