Submissions for variant NM_000035.4(ALDOB):c.625-2A>G

dbSNP: rs786204503

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000169186	SCV000220428	likely pathogenic	Hereditary fructosuria	2014-06-19	criteria provided, single submitter	literature only
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000169186	SCV000916439	likely pathogenic	Hereditary fructosuria	2018-08-16	criteria provided, single submitter	clinical testing	Variant summary: ALDOB c.625-2A>G 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: Five predict the variant abolishes a 3 acceptor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 246040 control chromosomes (gnomAD). The variant, c.625-2A>G, has been reported in the literature in individuals affected with Hereditary Fructose Intolerance (Esposito_2004, 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. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Baylor Genetics	RCV000169186	SCV004196549	pathogenic	Hereditary fructosuria	2023-10-11	criteria provided, single submitter	clinical testing
ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul	RCV000169186	SCV001573889	likely pathogenic	Hereditary fructosuria	2021-03-18	no assertion criteria provided	literature only