ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.801+3A>G (rs797044748)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178725 SCV000230866 pathogenic not provided 2014-08-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV001194307 SCV001363734 pathogenic Fabry disease 2019-03-13 criteria provided, single submitter clinical testing Variant summary: GLA c.801+3A>G alters a conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Several computational tools predict a significant impact on normal splicing: Three predict the variant abolishes a 5' splicing donor site. Two predict the variant weakens a 5' donor site. At least one publication reports experimental evidence that this variant affects mRNA splicing, reporting a 36-nucleotide insertion of intron sequence into the mRNA (Dobrovolny_2005). The variant was absent in 178758 control chromosomes. c.801+3A>G has been reported in the literature in individuals affected with Fabry Disease (Dobrovolny_2005, Shabbeer_2006). One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar in 2014 without evidence for independent evaluation, and it was classified as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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