ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.730C>T (p.Arg244Ter) (rs759363072)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481831 SCV000570935 pathogenic not provided 2016-08-23 criteria provided, single submitter clinical testing This variant is denoted BMPR1A c.730C>T at the cDNA level and p.Arg244Ter (R244X) 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. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.
Invitae RCV000686857 SCV000814394 pathogenic Juvenile polyposis syndrome 2018-11-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg244*) 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 not been reported in the literature in individuals with BMPR1A-related disease. ClinVar contains an entry for this variant (Variation ID: 421656). Loss-of-function variants in BMPR1A are known to be pathogenic (PMID: 11536076, 12417513). For these reasons, this variant has been classified as Pathogenic.
Academic Department of Medical Genetics, University of Cambridge RCV000850053 SCV000992195 pathogenic Hereditary cancer-predisposing syndrome 2018-01-26 criteria provided, single submitter research Application of AMCG guidelines 2015. Used other ClinVar submission evidence where relevant. Loss of heterozygosity in tumours or immunohistochemistry abnormalities considered functional evidence of pathogenicity.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000481831 SCV001133471 pathogenic not provided 2018-12-24 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.

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