ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.1684A>G (p.Ile562Val)

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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 RCV004969990 SCV005539219 uncertain significance Inborn genetic diseases 2024-11-18 criteria provided, single submitter clinical testing The p.I562V variant (also known as c.1684A>G), located in coding exon 12 of the BMPR2 gene, results from an A to G substitution at nucleotide position 1684. The isoleucine at codon 562 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005023748 SCV005654568 uncertain significance Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1 2024-01-21 criteria provided, single submitter clinical testing

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