ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.1230C>T (p.Pro410=)

gnomAD frequency: 0.00001  dbSNP: rs200642188
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418905 SCV000512267 likely benign not specified 2016-09-06 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.
Ambry Genetics RCV000565029 SCV000668304 likely benign Hereditary cancer-predisposing syndrome 2017-03-14 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 RCV000565029 SCV000682847 likely benign Hereditary cancer-predisposing syndrome 2016-11-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000902383 SCV001046802 likely benign Juvenile polyposis syndrome 2025-01-12 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000902383 SCV004835991 likely benign Juvenile polyposis syndrome 2023-11-20 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000902383 SCV005406197 benign Juvenile polyposis syndrome 2024-08-07 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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