ClinVar Miner

Submissions for variant NM_000344.3(SMN1):c.835-2A>G (rs141760116)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000780722 SCV000918232 likely pathogenic Spinal muscular atrophy 2018-02-27 criteria provided, single submitter clinical testing Variant summary: SMN1 c.835-2A>G 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: Five predict the variant abolishes a 3' acceptor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 243204 control chromosomes (gnomAD). The c.835-2A>G variant has been reported in the literature in one compound heterozygous individual affected with Spinal Muscular Atrophy (Eggermann_2008). These data do not allow any conclusion about variant significance. 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.
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children RCV000785797 SCV000924363 pathogenic Werdnig-Hoffmann disease 2016-02-26 criteria provided, single submitter clinical testing

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