ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.440G>A (p.Arg147Gln)

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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 RCV003012629 SCV003722639 uncertain significance Inborn genetic diseases 2022-04-12 criteria provided, single submitter clinical testing The c.440G>A (p.R147Q) alteration is located in exon 4 (coding exon 4) of the BMPR2 gene. This alteration results from a G to A substitution at nucleotide position 440, causing the arginine (R) at amino acid position 147 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003596229 SCV004259749 benign Primary pulmonary hypertension 2023-04-10 criteria provided, single submitter clinical testing

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