ClinVar Miner

Submissions for variant NM_001203.3(BMPR1B):c.1394A>G (p.Gln465Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002932047 SCV003256777 likely benign Type A2 brachydactyly; Acromesomelic dysplasia 3 2025-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004603252 SCV005095285 uncertain significance Inborn genetic diseases 2024-05-07 criteria provided, single submitter clinical testing The c.1394A>G (p.Q465R) alteration is located in exon 13 (coding exon 10) of the BMPR1B gene. This alteration results from a A to G substitution at nucleotide position 1394, causing the glutamine (Q) at amino acid position 465 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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