Submissions for variant NM_004329.3(BMPR1A):c.786A>G (p.Val262=)

gnomAD frequency: 0.00001  dbSNP: rs745728681

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000603112	SCV000714217	likely benign	not specified	2017-12-01	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health	RCV001185734	SCV001352000	likely benign	Hereditary cancer-predisposing syndrome	2019-09-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001487967	SCV001692467	likely benign	Juvenile polyposis syndrome	2023-11-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001185734	SCV002680839	likely benign	Hereditary cancer-predisposing syndrome	2020-12-01	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Myriad Genetics, Inc.	RCV001487967	SCV005405492	benign	Juvenile polyposis syndrome	2024-08-05	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
All of Us Research Program, National Institutes of Health	RCV001487967	SCV005424093	likely benign	Juvenile polyposis syndrome	2024-07-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003915757	SCV004730257	likely benign	BMPR1A-related disorder	2020-07-14	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).