Submissions for variant NM_000035.4(ALDOB):c.324+1G>A

dbSNP: rs764826805

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000202622	SCV000486733	pathogenic	Hereditary fructosuria	2016-08-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000202622	SCV001199384	pathogenic	Hereditary fructosuria	2023-07-07	criteria provided, single submitter	clinical testing	This sequence change affects a donor splice site in intron 3 of the ALDOB gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ALDOB are known to be pathogenic (PMID: 18541450). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 218380). Disruption of this splice site has been observed in individuals with fructose intolerance (PMID: 25595217). This variant is present in population databases (rs764826805, gnomAD 0.003%).
Baylor Genetics	RCV000202622	SCV004196682	pathogenic	Hereditary fructosuria	2024-01-30	criteria provided, single submitter	clinical testing
GeneReviews	RCV000202622	SCV000257569	not provided	Hereditary fructosuria		no assertion provided	literature only	Common in northern India
ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul	RCV000202622	SCV001573885	likely pathogenic	Hereditary fructosuria	2021-03-18	no assertion criteria provided	literature only
Natera, Inc.	RCV000202622	SCV002078723	pathogenic	Hereditary fructosuria	2020-08-19	no assertion criteria provided	clinical testing