ClinVar Miner

Submissions for variant NM_000035.4(ALDOB):c.673del (p.Glu225fs)

dbSNP: rs758133069
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001208927 SCV001380342 pathogenic Hereditary fructosuria 2023-11-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu225Argfs*5) 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). This variant is present in population databases (rs758133069, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ALDOB-related conditions. ClinVar contains an entry for this variant (Variation ID: 939513). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001208927 SCV002799428 likely pathogenic Hereditary fructosuria 2022-02-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV001208927 SCV004196637 pathogenic Hereditary fructosuria 2024-03-23 criteria provided, single submitter clinical testing

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