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NM_000035.4(ALDOB):c.681C>T (p.Thr227=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 23, 2020
Accession:
VCV000515340.5
Variation ID:
515340
Description:
single nucleotide variant
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NM_000035.4(ALDOB):c.681C>T (p.Thr227=)

Allele ID
502550
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q31.1
Genomic location
9: 101425571 (GRCh38) GRCh38 UCSC
9: 104187853 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1244:g.15210C>T
LRG_1244t1:c.681C>T LRG_1244p1:p.Thr227=
NC_000009.11:g.104187853G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000009.12:101425570:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00033
The Genome Aggregation Database (gnomAD), exomes 0.00030
Exome Aggregation Consortium (ExAC) 0.00035
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00046
The Genome Aggregation Database (gnomAD) 0.00038
Links
ClinGen: CA5161503
dbSNP: rs61757689
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Feb 15, 2018 RCV000604275.1
Uncertain significance 1 criteria provided, single submitter Dec 5, 2017 RCV000730768.3
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Nov 23, 2020 RCV001083529.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ALDOB - - GRCh38
GRCh37
281 316

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Feb 15, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000727413.1
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Uncertain significance
(Dec 05, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000858531.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary fructosuria
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001330369.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Nov 23, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary fructosuria
Allele origin: germline
Invitae
Accession: SCV001025107.3
Submitted: (Jan 07, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ALDOB - - - -

Text-mined citations for rs61757689...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021