Submissions for variant NM_001204.7(BMPR2):c.1481C>T (p.Ala494Val)

gnomAD frequency: 0.00001  dbSNP: rs2229778

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000362132	SCV000426391	likely benign	Pulmonary hypertension, primary, 1	2018-01-13	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.
Invitae	RCV002521364	SCV003485713	likely benign	Primary pulmonary hypertension	2023-06-16	criteria provided, single submitter	clinical testing
Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University	RCV001660695	SCV001877139	likely pathogenic	Genetic non-acquired premature ovarian failure	2019-10-01	no assertion criteria provided	research