ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.374T>C (p.Val125Ala) (rs750115837)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000455548 SCV000539099 uncertain significance not specified 2016-03-31 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: Reported in 1 proband; ExAC: 1/66342 European
Invitae RCV001299080 SCV001488156 uncertain significance Hereditary hemorrhagic telangiectasia 2020-09-24 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 125 of the ENG protein (p.Val125Ala). The valine residue is weakly conserved and there is a small physicochemical difference between valine and alanine. This variant is present in population databases (rs750115837, ExAC 0.002%). This variant has been observed in individual(s) with epistaxis, pulmonary arteriovenous malformation, or polyps (PMID: 21158752, 27146957). ClinVar contains an entry for this variant (Variation ID: 402828). 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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