ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.64A>G (p.Thr22Ala)

gnomAD frequency: 0.00002  dbSNP: rs764472279
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001983824 SCV002279415 likely benign Hereditary hemorrhagic telangiectasia 2023-08-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004045325 SCV005037545 uncertain significance Cardiovascular phenotype 2023-10-06 criteria provided, single submitter clinical testing The p.T22A variant (also known as c.64A>G), located in coding exon 1 of the ENG gene, results from an A to G substitution at nucleotide position 64. The threonine at codon 22 is replaced by alanine, an amino acid with similar properties. This amino acid position is well 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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