ClinVar Miner

Submissions for variant NM_001203.3(BMPR1B):c.16G>A (p.Ala6Thr)

gnomAD frequency: 0.00009  dbSNP: rs143885868
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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 RCV001347682 SCV001541955 benign Type A2 brachydactyly; Acromesomelic dysplasia 3 2023-05-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002547462 SCV003562943 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing The c.16G>A (p.A6T) alteration is located in exon 4 (coding exon 1) of the BMPR1B gene. This alteration results from a G to A substitution at nucleotide position 16, causing the alanine (A) at amino acid position 6 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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