Submissions for variant NM_004329.3(BMPR1A):c.1394del (p.Pro465fs)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Myriad Genetics, Inc.	RCV003459137	SCV004189595	likely pathogenic	Juvenile polyposis syndrome	2023-11-20	criteria provided, single submitter	clinical testing	This variant is considered likely pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003459137	SCV004315204	pathogenic	Juvenile polyposis syndrome	2024-09-06	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Pro465Argfs*33) in the BMPR1A gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 68 amino acid(s) of the BMPR1A protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BMPR1A-related conditions. This variant disrupts a region of the BMPR1A protein in which other variant(s) (p.Trp504*) have been determined to be pathogenic (internal data). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.