ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.920A>T (p.Asn307Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002371252 SCV002688129 uncertain significance Cardiovascular phenotype 2020-03-05 criteria provided, single submitter clinical testing The p.N307I variant (also known as c.920A>T), located in coding exon 7 of the ENG gene, results from an A to T substitution at nucleotide position 920. The asparagine at codon 307 is replaced by isoleucine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003594246 SCV004308026 likely pathogenic Hereditary hemorrhagic telangiectasia 2023-05-29 criteria provided, single submitter clinical testing 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 expected to disrupt ENG protein function. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This missense change has been observed in individual(s) with hereditary hemorrhagic telangiectasia (Invitae). It has also been observed to segregate with disease in related individuals. This sequence change replaces asparagine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 307 of the ENG protein (p.Asn307Ile). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 1766194).

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