ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.1578A>G (p.Glu526=)

gnomAD frequency: 0.00002  dbSNP: rs202030576
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000581620 SCV000688249 likely benign Hereditary cancer-predisposing syndrome 2017-10-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000581620 SCV001172677 likely benign Hereditary cancer-predisposing syndrome 2018-06-29 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001393070 SCV001594723 likely benign Juvenile polyposis syndrome 2024-12-25 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001393070 SCV004838526 likely benign Juvenile polyposis syndrome 2023-02-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586769 SCV005077606 likely benign not specified 2024-04-18 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV001393070 SCV005407436 benign Juvenile polyposis syndrome 2024-08-08 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.

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