ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.374del (p.Cys125fs) (rs1564717692)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000779036 SCV000915485 uncertain significance Juvenile polyposis syndrome 2017-10-05 criteria provided, single submitter clinical testing The BMPR1A c.374delG (p.Cys125PhefsTer19) variant results in a frameshift and is predicted to result in premature termination of the protein. This variant is absent from the 1000 Genomes Project, the Exome Sequencing Project, Exome Aggregation Consortium and the Genome Aggregation Database, and therefore is presumed to be rare. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. Based on the potential impact of frameshift variants and lack of clarifying evidence, the p.Cys125PhefsTer19 variant is classified as a variant of unknown significance but suspicious for pathogenicity for juvenile polyposis. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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