ClinVar Miner

Submissions for variant NM_001203.3(BMPR1B):c.43A>G (p.Lys15Glu)

gnomAD frequency: 0.00004  dbSNP: rs1346115955
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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 RCV002020704 SCV002299946 likely benign Type A2 brachydactyly; Acromesomelic dysplasia 3 2023-08-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002548202 SCV003730832 uncertain significance Inborn genetic diseases 2022-09-22 criteria provided, single submitter clinical testing The c.43A>G (p.K15E) alteration is located in exon 4 (coding exon 1) of the BMPR1B gene. This alteration results from a A to G substitution at nucleotide position 43, causing the lysine (K) at amino acid position 15 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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