ClinVar Miner

Submissions for variant NM_000035.4(ALDOB):c.522C>G (p.Tyr174Ter)

dbSNP: rs752902486
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671386 SCV000796357 pathogenic Hereditary fructosuria 2017-12-12 criteria provided, single submitter clinical testing
Invitae RCV000671386 SCV002236212 pathogenic Hereditary fructosuria 2022-12-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 555545). This premature translational stop signal has been observed in individual(s) with hereditary fructose intolerance (PMID: 16406649). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr174*) in the ALDOB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALDOB are known to be pathogenic (PMID: 18541450).
ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul RCV000671386 SCV001573840 likely pathogenic Hereditary fructosuria 2021-03-18 no assertion criteria provided literature only

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