ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.1221C>G (p.Tyr407Ter) (rs1131691181)

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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 RCV000493517 SCV000581499 pathogenic Hereditary cancer-predisposing syndrome 2017-05-26 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)
Integrated Genetics/Laboratory Corporation of America RCV000779843 SCV000916693 likely pathogenic Juvenile polyposis syndrome 2017-11-30 criteria provided, single submitter clinical testing Variant summary: The BMPR1A c.1221C>G (p.Tyr407X) 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. One in silico tool predicts a damaging outcome for this variant. This variant is absent in 246236 control chromosomes. One clinical diagnostic laboratory classified this variant as pathogenic. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely pathogenic.

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