ClinVar Miner

Submissions for variant NM_005902.4(SMAD3):c.532+1G>C

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Total submissions: 1
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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 RCV001526933 SCV001737698 likely pathogenic Loeys-Dietz syndrome 2021-05-24 criteria provided, single submitter clinical testing Variant summary: SMAD3 c.532+1G>C is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a 5 prime splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 251280 control chromosomes. c.532+1G>C has been reported in the literature in at least one individual affected with Loeys-Dietz Syndrome (Schepers_2018). To our knowledge, no experimental evidence demonstrating an impact on protein function has 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 likely pathogenic.

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