Submissions for variant NM_006129.5(BMP1):c.941G>A (p.Arg314His)

gnomAD frequency: 0.00100  dbSNP: rs538263166

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001159119	SCV001320807	likely benign	Osteogenesis imperfecta type 13	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001514047	SCV001721793	benign	not provided	2024-11-23	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002276647	SCV002565114	likely benign	Osteogenesis imperfecta	2021-08-18	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001159119	SCV005878445	likely benign	Osteogenesis imperfecta type 13	2023-12-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003953543	SCV004776175	benign	BMP1-related disorder	2020-01-23	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).