ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.220A>G (p.Lys74Glu)

gnomAD frequency: 0.00006  dbSNP: rs757855256
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000983865 SCV001131903 likely benign Primary pulmonary hypertension 2023-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002427435 SCV002728733 uncertain significance Inborn genetic diseases 2021-12-29 criteria provided, single submitter clinical testing The p.K74E variant (also known as c.220A>G), located in coding exon 2 of the BMPR2 gene, results from an A to G substitution at nucleotide position 220. The lysine at codon 74 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is conserved. 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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