ClinVar Miner

Submissions for variant NM_000035.4(ALDOB):c.612T>G (p.Tyr204Ter) (rs370793608)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000779689 SCV000916438 pathogenic Hereditary fructosuria 2018-05-25 criteria provided, single submitter clinical testing Variant summary: ALDOB c.612T>G (p.Tyr204X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 250130 control chromosomes (gnomAD and publications). The variant, c.612T>G, has been reported in the literature in individuals affected with Hereditary Fructose Intolerance (Santer_2005, Gruchota_2006, 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. EGL Genetics classified this variant as pathogenic. The c.612T>A variant, causing the same codon change Y204X, has been reported in multiple affected individuals and classified as pathogenic/likely pathogenic by multiple clinical labs via ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic.

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