ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.565G>A (p.Asp189Asn)

dbSNP: rs147792018
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001243876 SCV001417062 benign Hereditary hemorrhagic telangiectasia 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348827 SCV002651873 uncertain significance Cardiovascular phenotype 2021-01-12 criteria provided, single submitter clinical testing The p.D189N variant (also known as c.565G>A), located in coding exon 5 of the ENG gene, results from a G to A substitution at nucleotide position 565. The aspartic acid at codon 189 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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