Submissions for variant NM_004329.3(BMPR1A):c.1166+3G>A

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003825023	SCV004620692	uncertain significance	Juvenile polyposis syndrome	2023-09-07	criteria provided, single submitter	clinical testing	This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant has not been reported in the literature in individuals affected with BMPR1A-related conditions. This sequence change falls in intron 10 of the BMPR1A gene. It does not directly change the encoded amino acid sequence of the BMPR1A protein. It affects a nucleotide within the consensus splice site.
Myriad Genetics, Inc.	RCV003825023	SCV005407062	likely benign	Juvenile polyposis syndrome	2024-08-06	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.