ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.682C>T (p.Arg228Ter) (rs587782682)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132109 SCV000187175 pathogenic Hereditary cancer-predisposing syndrome 2015-12-29 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 RCV000475579 SCV000552875 pathogenic Juvenile polyposis syndrome 2018-05-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg228*) 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 reported in individuals affected with juvenile polyposis syndrome (PMID: 12136244, 23399955). ClinVar contains an entry for this variant (Variation ID: 142735). Loss-of-function variants in BMPR1A are known to be pathogenic (PMID: 11536076, 12417513). For these reasons, this variant has been classified as Pathogenic.
Integrated Genetics/Laboratory Corporation of America RCV000475579 SCV000698322 pathogenic Juvenile polyposis syndrome 2017-02-09 criteria provided, single submitter clinical testing Variant summary: The BMPR1A c.682C>T (p.Arg228X) variant results in a premature termination codon, predicted to cause a truncated or absent BMPR1A protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant of interest was not observed in controls (ExAC, 1000 Gs, or ESP), however, publications have cited the variant in two affected females with juvenile polyposis syndrome. In addition, multiple clinical diagnostic laboratories classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.

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