ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.2362G>A (p.Val788Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV003320419 SCV004024496 uncertain significance Pulmonary hypertension, primary, 1 2023-07-20 criteria provided, single submitter clinical testing This BMPR2 variant (rs146310981) is rare (<0.1%) in a large population dataset (gnomAD: 7/251458 total alleles 0.0028%; no homozygotes) and has not been reported in ClinVar nor the literature, to our knowledge. Of two bioinformatics tools queried, one predicts that the substitution would be damaging, while the other predicts that it would be tolerated. The valine residue at this position is conserved across most of the vertebrate species assessed. Bioinformatic analysis predicts that this missense variant would not affect normal exon 12 splicing, although this has not been confirmed experimentally to our knowledge. Due to insufficient evidence, we consider the clinical significance of c.2362G>A (p.Val788Ile) to be uncertain at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV003596243 SCV004285754 benign Primary pulmonary hypertension 2023-05-22 criteria provided, single submitter clinical testing

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