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NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 9, 2024
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:
RCV004019778.1

Allele description [Variation Report for NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp)]

NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp)

Gene:
SLC2A10:solute carrier family 2 member 10 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.12
Genomic location:
Preferred name:
NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp)
Other names:
p.R231W:CGG>TGG
HGVS:
  • NC_000020.11:g.46725727C>T
  • NG_016284.1:g.21088C>T
  • NM_030777.4:c.691C>TMANE SELECT
  • NP_110404.1:p.Arg231Trp
  • NP_110404.1:p.Arg231Trp
  • NC_000020.10:g.45354366C>T
  • NM_030777.3:c.691C>T
Protein change:
R231W
Links:
dbSNP: rs146579504
NCBI 1000 Genomes Browser:
rs146579504
Molecular consequence:
  • NM_030777.4:c.691C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial thoracic aortic aneurysm and aortic dissection (TAAD)
Synonyms:
Thoracic aortic aneurysm and aortic dissection; Thoracic aortic aneurysms and dissections
Identifiers:
MONDO: MONDO:0019625; MedGen: C4707243; Orphanet: 91387; OMIM: PS607086

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005029117Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely pathogenic
(Feb 9, 2024) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Arterial tortuosity syndrome in two Italian paediatric patients.

Ritelli M, Drera B, Vicchio M, Puppini G, Biban P, Pilati M, Prioli MA, Barlati S, Colombi M.

Orphanet J Rare Dis. 2009 Sep 25;4:20. doi: 10.1186/1750-1172-4-20.

PubMed [citation]
PMID:
19781076
PMCID:
PMC2759904

Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.

Li J, Yang L, Diao Y, Zhou L, Xin Y, Jiang L, Li R, Wang J, Duan W, Liu J.

Mol Genet Genomic Med. 2021 Oct;9(10):e1800. doi: 10.1002/mgg3.1800. Epub 2021 Sep 8.

PubMed [citation]
PMID:
34498425
PMCID:
PMC8580079

Details of each submission

From Ambry Genetics, SCV005029117.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The p.R231W variant (also known as c.691C>T), located in coding exon 2 of the SLC2A10 gene, results from a C to T substitution at nucleotide position 691. The arginine at codon 231 is replaced by tryptophan, an amino acid with dissimilar properties. This alteration has been reported in trans with a frameshift alteration in an individual with arterial tortuosity syndrome (Ritelli M et al. Orphanet J Rare Dis, 2009 Sep;4:20). Another alteration at the same codon, p.R231Q (c.692G>A), has been detected in trans with other pathogenic mutations in individuals with arterial tortuosity syndrome (Callewaert BL et al. Hum Mutat. 2008;29(1):150-158; Takahashi Y et al. Am J Med Genet A. 2013;161A(4):856-859). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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

Last Updated: Oct 26, 2024