ClinVar Miner

Submissions for variant NM_001203.3(BMPR1B):c.289A>G (p.Thr97Ala)

gnomAD frequency: 0.00006  dbSNP: rs759423600
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000304200 SCV000338459 uncertain significance not provided 2015-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000304200 SCV002007333 uncertain significance not provided 2021-04-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002518966 SCV003243487 likely benign Type A2 brachydactyly; Acromesomelic dysplasia 3 2023-12-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920095 SCV004735257 uncertain significance BMPR1B-related disorder 2023-11-16 no assertion criteria provided clinical testing The BMPR1B c.289A>G variant is predicted to result in the amino acid substitution p.Thr97Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/4-96036878-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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