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NM_003104.6(SORD):c.757del (p.Ala253fs) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 5, 2020
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:
RCV001266105.6

Allele description [Variation Report for NM_003104.6(SORD):c.757del (p.Ala253fs)]

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]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001444277Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jun 5, 2020) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.

Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA; Inherited Neuropathy Consortium, Isasi R, Khan A, Laurà M, Magri S, Pipis M, Pisciotta C, et al.

Nat Genet. 2020 May;52(5):473-481. doi: 10.1038/s41588-020-0615-4. Epub 2020 May 4. Erratum in: Nat Genet. 2020 Jun;52(6):640. doi: 10.1038/s41588-020-0649-7..

PubMed [citation]
PMID:
32367058
PMCID:
PMC8353599

Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.

Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA; Inherited Neuropathy Consortium, Isasi R, Khan A, Laurà M, Magri S, Pipis M, Pisciotta C, et al.

Nat Genet. 2020 Jun;52(6):640. doi: 10.1038/s41588-020-0649-7.

PubMed [citation]
PMID:
32457452
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV001444277.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The c.757delG (p.A253Qfs*27) alteration, located in coding exon 7 of the SORD gene, results from a deletion of one nucleotide at position 757, causing a translational frameshift with a predicted alternate stop codon after 27 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from the Genome Aggregation Database (gnomAD), the SORD c.757delG (p.A253Qfs*27) alteration was observed in 0.0415% (115/277,146) of total alleles studied, with a frequency of 0.0613% (15/24,486) in the African subpopulation. One homozygote was observed. This alteration has been observed homozygous in 38 families and compound heterozygous with a second alteration in 7 families affected with neuropathy (Cortese, 2020). Based on the available evidence, this alteration is classified as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 13, 2025