ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.1280T>C (p.Met427Thr)

dbSNP: rs1843667096
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193978 SCV001363179 uncertain significance not specified 2019-12-23 criteria provided, single submitter clinical testing Variant summary: BMPR1A c.1280T>C (p.Met427Thr) results in a non-conservative amino acid change located in the Serine-threonine/tyrosine-protein kinase catalytic domain (IPR001245) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251496 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1280T>C in individuals affected with Juvenile Polyposis Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
All of Us Research Program, National Institutes of Health RCV004010607 SCV004829204 uncertain significance Juvenile polyposis syndrome 2023-09-17 criteria provided, single submitter clinical testing This missense variant replaces methionine with threonine at codon 427 of the BMPR1A protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with BMPR1A-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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