ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.506_507insTCC (p.Phe170_Ser171insPro) (rs763554505)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000608762 SCV000731333 uncertain significance not specified 2016-12-08 criteria provided, single submitter clinical testing The p.Ile169_Phe170insPro variant in BMPR1A has not been previously reported in individuals with juvenile polyposis syndrome. This variant has been identified i n 1/66688 of European chromosomes by the Exome Aggregation Consortium (ExAC, htt p://exac.broadinstitute.org; dbSNP rs763554505). This variant is an insertion of 1 amino acid at position 169 and is not predicted to alter the protein reading- frame. The effect of this insertion on the protein is unknown. In summary, the clinical significance of the p.Ile169_Phe170insPro variant is uncertain.

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