ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.1480C>T (p.Arg494Ter) (rs786201040)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162419 SCV000212760 pathogenic Hereditary cancer-predisposing syndrome 2016-07-01 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Rarity in general population databases (dbsnp, esp, 1000 genomes)
GeneDx RCV000483189 SCV000564704 likely pathogenic not provided 2014-10-20 criteria provided, single submitter clinical testing This variant is denoted BMPR1A c.1480C>T at the cDNA level and p.Arg494Ter (R494X) 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 protein truncation, as the last 39 amino acids of the protein are lost. However, as this variant is located in the last exon of the BMPR1A gene, the functional consequence of losing these 39 amino acids is not known. This variant has been reported as disease-causing in an individual with juvenile and hamartomatous polyps (Ngeow 2013). Based on the currently available information, we consider BMPR1A Arg494Ter to be a likely pathogenic variant.

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