ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.121G>A (p.Glu41Lys)

gnomAD frequency: 0.00007  dbSNP: rs199675436
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000791352 SCV000629548 likely benign Hereditary hemorrhagic telangiectasia 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000559765 SCV000897485 uncertain significance Telangiectasia, hereditary hemorrhagic, type 1 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367789 SCV002656754 uncertain significance Cardiovascular phenotype 2020-09-22 criteria provided, single submitter clinical testing The p.E41K variant (also known as c.121G>A), located in coding exon 2 of the ENG gene, results from a G to A substitution at nucleotide position 121. The glutamic acid at codon 41 is replaced by lysine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and lysine is the reference amino acid in other 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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