ClinVar Miner

Submissions for variant NM_001199.4(BMP1):c.2161C>T (p.Arg721Ter)

gnomAD frequency: 0.00352  dbSNP: rs116360985
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579141 SCV000680623 uncertain significance not provided 2024-08-15 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation as the last 10 amino acids are lost; Has not been previously published in association with a BMP1-related disorder to our knowledge; Reported using an alternate transcript of the gene; This variant is associated with the following publications: (PMID: 28346524, 29089047)
Labcorp Genetics (formerly Invitae), Labcorp RCV000579141 SCV001103335 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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