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NM_003104.6(SORD):c.757del (p.Ala253fs) AND Idiopathic environmental intolerance

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 29, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002468945.3

Allele description

NM_003104.6(SORD):c.757del (p.Ala253fs)

Gene:
SORD:sorbitol dehydrogenase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_003104.6(SORD):c.757del (p.Ala253fs)
Other names:
p.A253Qfs*27; p.Ala253Glnfs*27
HGVS:
  • NC_000015.10:g.45069023del
  • NM_003104.6:c.757delMANE SELECT
  • NP_003095.2:p.Ala253fs
  • NC_000015.10:g.45069023delG
  • NC_000015.9:g.45361217del
  • NC_000015.9:g.45361221del
  • NM_003104.5:c.757del
  • NM_003104.5:c.757delG
  • NM_003104.6:c.757delGMANE SELECT
  • NR_034039.2:n.931del
Protein change:
A253fs
Links:
OMIM: 182500.0001; dbSNP: rs55901542
NCBI 1000 Genomes Browser:
rs55901542
Molecular consequence:
  • NM_003104.6:c.757del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_034039.2:n.931del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
protein truncation [Variation Ontology: 0015]
Observations:
1

Condition(s)

Name:
Idiopathic environmental intolerance
Identifiers:
MedGen: C0242992

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002756471Nutriplexity
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Nov 29, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Relationship between glutathione and sorbitol concentrations in erythrocytes from diabetic patients.

Ciuchi E, Odetti P, Prando R.

Metabolism. 1996 May;45(5):611-3.

PubMed [citation]
PMID:
8622605

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Nutriplexity, SCV002756471.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (2)

Description

The SORD gene encodes sorbitol dehydrogenase which oxidizes sorbitol to fructose using NAD+. Elevations of blood glucose result in high blood and tissue sorbitol levels. Sorbitol build-up results in the depletion of glutathione (PMID 8622605). An altered redox profile and depletion of glutathione is characteristic of chemical sensitivity (20430047).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 22, 2025