ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.8G>A (p.Arg3His)

dbSNP: rs1588604597
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253137 SCV001428696 pathogenic Telangiectasia, hereditary hemorrhagic, type 1 2019-09-13 criteria provided, single submitter clinical testing
Mendelics RCV002246239 SCV002517023 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002570525 SCV003491133 uncertain significance Hereditary hemorrhagic telangiectasia 2022-06-02 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 3 of the ENG protein (p.Arg3His). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ENG-related conditions. ClinVar contains an entry for this variant (Variation ID: 975983). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ENG protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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