Submissions for variant NM_000035.4(ALDOB):c.264C>A (p.Asp88Glu)

dbSNP: rs200585150

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725650	SCV000338368	uncertain significance	not provided	2017-10-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000725650	SCV000512016	uncertain significance	not provided	2016-08-29	criteria provided, single submitter	clinical testing	The D88E variant in the ALDOB gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. The D88E variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project; however, the D88E variant was observed in the Exome Aggregation Consortium (ExAC) data set on 0.39% of alleles (60/16512) from individuals of South Asian background, including one homozygous individual, indicating it may be a rare benign variant in this population. The D88E variant is a conservative amino acid substitution, which occurs at a position that is conserved among mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Based on review of the current data in the context of the 2015 ACMG standards and guidelines for the interpretation of sequence variants (Richards et al., 2015), we now interpret D88E as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000674895	SCV001069920	likely benign	Hereditary fructosuria	2024-01-29	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000674895	SCV002060222	uncertain significance	Hereditary fructosuria	2021-11-03	criteria provided, single submitter	clinical testing	NM_000035.3(ALDOB):c.264C>A(D88E) is a missense variant classified as a variant of uncertain significance in the context of hereditary fructose intolerance. D88E has been observed in in cases with relevant disease (PMID: 26633542). Functional assessments of this variant are not available in the literature. D88E has been observed in population frequency databases (gnomAD: SAS 0.34%). In summary, there is insufficient evidence to classify NM_000035.3(ALDOB):c.264C>A(D88E) as pathogenic or benign. Please note: this variant was assessed in the context of healthy population screening.
ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul	RCV000674895	SCV001573833	likely pathogenic	Hereditary fructosuria	2021-03-18	no assertion criteria provided	literature only