ClinVar Miner

Submissions for variant NM_001203.3(BMPR1B):c.1112G>A (p.Arg371Gln)

dbSNP: rs34970181
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000685866 SCV000813366 likely benign Type A2 brachydactyly; Acromesomelic dysplasia 3 2024-12-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711142 SCV005260224 likely benign not provided criteria provided, single submitter not provided
GenomeConnect, ClinGen RCV000509388 SCV000607055 not provided Type A2 brachydactyly no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
PreventionGenetics, part of Exact Sciences RCV003409723 SCV004106349 uncertain significance BMPR1B-related disorder 2024-05-28 no assertion criteria provided clinical testing The BMPR1B c.1112G>A variant is predicted to result in the amino acid substitution p.Arg371Gln. This variant was reported in an individual with pulmonary arterial hypertension (Supplementary Dataset 1 in Wang et al. 2018. PubMed ID: 30578397) and in a patient with cleft lip with/without cleft palate (Marini et al. 2019. PubMed ID: 31063268). This variant is reported in 0.13% of alleles in individuals of South Asian descent in gnomAD, including one homozygous individual. This variant has been interpreted by a single submitter in ClinVar as likely benign (https://preview.ncbi.nlm.nih.gov/clinvar/variation/441001/). Although we suspect that this variant may be benign, 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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