ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.817C>T (p.Arg273Ter) (rs587782400)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131433 SCV000186414 pathogenic Hereditary cancer-predisposing syndrome 2016-06-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000229057 SCV000288402 pathogenic Juvenile polyposis syndrome 2018-09-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg273*) in the BMPR1A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Juvenile polyposis syndrome (PMID: 11536076, 18823382). ClinVar contains an entry for this variant (Variation ID: 142351). Loss-of-function variants in BMPR1A are known to be pathogenic (PMID: 11536076, 12417513). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000482559 SCV000566670 pathogenic not provided 2016-06-15 criteria provided, single submitter clinical testing This variant is denoted BMPR1A c.817C>T at the cDNA level and p.Arg273Ter (R273X) at the protein level. The substitution creates a nonsense variant, which changes an Arginine to a premature stop codon (CGA>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in association with Juvenile Polyposis Syndrome (JPS) and is considered pathogenic (Zhou 2001, Calva-Cerqueira 2009).
Color RCV000131433 SCV000688295 pathogenic Hereditary cancer-predisposing syndrome 2017-09-07 criteria provided, single submitter clinical testing

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