ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.349C>T (p.Gln117Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003335721 SCV004044977 pathogenic Juvenile polyposis syndrome 2023-05-26 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.
Ambry Genetics RCV004604940 SCV005095231 pathogenic Hereditary cancer-predisposing syndrome 2024-04-03 criteria provided, single submitter clinical testing The p.Q117* pathogenic mutation (also known as c.349C>T), located in coding exon 4 of the BMPR1A gene, results from a C to T substitution at nucleotide position 349. This changes the amino acid from a glutamine to a stop codon within coding exon 4. This variant has been detected in patients with juvenile polyposis syndrome (JPS) (Sayed MG et al. Ann Surg Oncol, 2002 Nov;9:901-6; Aretz S et al. J Med Genet, 2007 Nov;44:702-9). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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