ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.110_111insCCATGGCACTGGGAT (p.Ser37_Asp38insHisGlyThrGlyIle)

dbSNP: rs1589763343
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000798986 SCV000938631 pathogenic Generalized juvenile polyposis/juvenile polyposis coli 2018-12-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp38Hisfs*16) 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 not been reported in the literature in individuals with BMPR1A-related disease. Loss-of-function variants in BMPR1A are known to be pathogenic (PMID: 11536076, 12417513). For these reasons, this variant has been classified as Pathogenic.

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