ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.143dup (p.Thr49fs) (rs1554888114)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478294 SCV000571764 likely pathogenic not provided 2017-04-07 criteria provided, single submitter clinical testing The c.143dupT variant in the BMPR1A gene has been reported previously in at least one individual with multiple adenomatous polyps (Taylor et al., 2015). The duplication causes a frameshift starting with codon Threonine 49, changes this amino acid to an Asparagine residue and creates a premature Stop codon at position 22 of the new reading frame, denoted p.Thr49AsnfsX22. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence. c.143dupT is a strong candidate for a pathogenic variant. However, the possibility it may be a rare benign variant cannot be excluded.

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