ClinVar Miner

Submissions for variant NM_000035.4(ALDOB):c.113-1_115del (rs786204598)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169352 SCV000220722 likely pathogenic Hereditary fructosuria 2014-09-23 criteria provided, single submitter literature only
Integrated Genetics/Laboratory Corporation of America RCV000169352 SCV000918413 likely pathogenic Hereditary fructosuria 2018-10-29 criteria provided, single submitter clinical testing Variant summary: ALDOB c.113-1_115delGGTA 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 3 acceptor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.1e-05 in 276650 control chromosomes (gnomAD). c.113-1_115delGGTA has been reported in the literature in a homozygous individual from a consanguineous family who was affected with Hereditary Fructose Intolerance (Cross 1990). These data indicate that the variant likely to 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.

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