ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.25A>T (p.Arg9Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002426220 SCV002743025 pathogenic Hereditary cancer-predisposing syndrome 2015-12-10 criteria provided, single submitter clinical testing The p.R9* pathogenic mutation (also known as c.25A>T), located in coding exon 1 of the BMPR1A gene, results from an A to T substitution at nucleotide position 25. This changes the amino acid from an arginine to a stop codon within coding exon 1. Since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Myriad Genetics, Inc. RCV003336741 SCV004043681 pathogenic Juvenile polyposis syndrome 2023-05-25 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Baylor Genetics RCV003475386 SCV004212658 likely pathogenic Polyposis syndrome, hereditary mixed, 2 2023-04-27 criteria provided, single submitter clinical testing

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