ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.594A>G (p.Ala198=)

gnomAD frequency: 0.00001  dbSNP: rs369860867
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000471175 SCV000562738 likely benign Juvenile polyposis syndrome 2025-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV001024712 SCV001186780 likely benign Hereditary cancer-predisposing syndrome 2019-02-27 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.
Color Diagnostics, LLC DBA Color Health RCV001024712 SCV001351997 likely benign Hereditary cancer-predisposing syndrome 2020-01-28 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000471175 SCV005406370 benign Juvenile polyposis syndrome 2024-08-01 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 RCV000471175 SCV005424029 likely benign Juvenile polyposis syndrome 2024-03-14 criteria provided, single submitter clinical testing

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