ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val) (rs201393026)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766833 SCV000250726 uncertain significance not provided 2017-09-08 criteria provided, single submitter clinical testing The A457V variant of uncertain significance in the SLC2A10 gene has not been published as pathogenic or benign to our knowledge. This variant has been identified, in conjunction with additional cardiogenetic variants, in other unrelated individuals referred for Marfan syndrome/TAAD genetic testing at GeneDx. However, thus far, segregation data is limited or absent for these individuals due to the lack of clinical information provided and insufficient participation by informative family members. The A457V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In addition, this substitution also occurs at a position where amino acids with similar properties to alanine are tolerated across species, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function Furthermore, A457V is observed in 22/66,740 alleles from individuals of European (Non-Finnish) ancestry in the Exome Aggregation Consortium (ExAC) database (Lek et al., 2016).
Ambry Genetics RCV000253705 SCV000320580 uncertain significance Cardiovascular phenotype 2018-05-09 criteria provided, single submitter clinical testing The p.A457V variant (also known as c.1370C>T), located in coding exon 3 of the SLC2A10 gene, results from a C to T substitution at nucleotide position 1370. The alanine at codon 457 is replaced by valine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, valine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Illumina Clinical Services Laboratory,Illumina RCV000356436 SCV000434168 uncertain significance Arterial tortuosity syndrome 2018-01-12 criteria provided, single submitter clinical testing 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 by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000356436 SCV000605162 uncertain significance Arterial tortuosity syndrome 2019-09-25 criteria provided, single submitter clinical testing The SLC2A10 c.1370C>T; p.Ala457Val variant (rs201393026), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 213737). This variant is found in the general population with an allele frequency of 0.024% (67/282,878 alleles) in the Genome Aggregation Database. The alanine at codon 457 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of this variant is uncertain at this time.
Invitae RCV000356436 SCV000644158 likely benign Arterial tortuosity syndrome 2020-06-16 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000766833 SCV001502394 uncertain significance not provided 2020-09-01 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000581259 SCV000692261 uncertain significance Aortic aneurysm, familial thoracic 2 2016-11-08 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.