ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.697C>T (p.Gln233Ter) (rs1554890743)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522325 SCV000617650 likely pathogenic not provided 2017-07-24 criteria provided, single submitter clinical testing This variant is denoted BMPR1A c.697C>T at the cDNA level and p.Gln233Ter (Q233X) at the proteinlevel. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG),and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNAdecay. This variant has been reported in at least one individual with juvenile polyps (Ngeow 2013) and is consideredlikely pathogenic

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