NM_000035.4(ALDOB):c.673del (p.Glu225fs) AND Hereditary fructosuria

Germline classification:: Pathogenic/Likely pathogenic (3 submissions)
Last evaluated:: Mar 23, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001208927.9

Allele description [Variation Report for NM_000035.4(ALDOB):c.673del (p.Glu225fs)]

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

Gene:

ALDOB:aldolase, fructose-bisphosphate B [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

9q31.1

Genomic location:

Preferred name:

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

HGVS:

NC_000009.12:g.101425580del
NG_012387.1:g.15202del
NM_000035.4:c.673delMANE SELECT
NP_000026.2:p.Glu225fs
LRG_1244t1:c.673del
LRG_1244:g.15202del
LRG_1244p1:p.Glu225fs
NC_000009.11:g.104187861del
NC_000009.11:g.104187862del
NM_000035.3:c.673del

Protein change:

E225fs

Links:

dbSNP: rs758133069

NCBI 1000 Genomes Browser:

rs758133069

Molecular consequence:

NM_000035.4:c.673del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hereditary fructosuria
Synonyms:: Hereditary fructose intolerance; Fructose-1-phosphate aldolase deficiency; Aldolase B deficiency; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009249; MedGen: C0016751; Orphanet: 469; OMIM: 229600; Human Phenotype Ontology: HP:0005973

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001380342	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 20, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 18541450, 28492532
SCV002799428	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Feb 24, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004196637	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 23, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001380342

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 20, 2023)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV002799428

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Feb 24, 2022)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV004196637

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 23, 2024)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations.

Davit-Spraul A, Costa C, Zater M, Habes D, Berthelot J, Broué P, Feillet F, Bernard O, Labrune P, Baussan C.

Mol Genet Metab. 2008 Aug;94(4):443-447. doi: 10.1016/j.ymgme.2008.05.003. Epub 2008 Jun 9.

PubMed [citation]

PMID:: 18541450

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001380342.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Fulgent Genetics, Fulgent Genetics, SCV002799428.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Baylor Genetics, SCV004196637.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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