ClinVar Miner

Submissions for variant NM_000035.4(ALDOB):c.625-2A>G (rs786204503)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169186 SCV000220428 likely pathogenic Hereditary fructosuria 2014-06-19 criteria provided, single submitter literature only
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000169186 SCV000916439 likely pathogenic Hereditary fructosuria 2018-08-16 criteria provided, single submitter clinical testing Variant summary: ALDOB c.625-2A>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 246040 control chromosomes (gnomAD). The variant, c.625-2A>G, has been reported in the literature in individuals affected with Hereditary Fructose Intolerance (Esposito_2004, Ferri_2012). These data indicate that the variant may be associated with disease. 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.
ATS em Genética Clínica,Universidade Federal do Rio Grande do Sul RCV000169186 SCV001573889 likely pathogenic Hereditary fructosuria 2021-03-18 no assertion criteria provided literature only

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