ClinVar Miner

Submissions for variant NM_006129.5(BMP1):c.2431C>T (p.Arg811Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002891225 SCV003248281 pathogenic not provided 2022-10-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg811*) in the BMP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BMP1 are known to be pathogenic (PMID: 25656619, 27576954, 28257626). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with BMP1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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