ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.528C>A (p.Tyr176Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003335559 SCV004043236 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 RCV004604939 SCV005095274 pathogenic Hereditary cancer-predisposing syndrome 2024-06-06 criteria provided, single submitter clinical testing The p.Y176* pathogenic mutation (also known as c.528C>A), located in coding exon 5 of the BMPR1A gene, results from a C to A substitution at nucleotide position 528. This changes the amino acid from a tyrosine to a stop codon within coding exon 5. This variant was reported in an individual with features consistent with juvenile polyposis syndrome (Ngeow J et al. Gastroenterology, 2013 Jun;144:1402-9, 1409.e1-5). 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.
Fulgent Genetics, Fulgent Genetics RCV005047537 SCV005678933 likely pathogenic Polyposis syndrome, hereditary mixed, 2; Juvenile polyposis syndrome 2024-05-21 criteria provided, single submitter clinical testing

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