ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.704C>T (p.Ala235Val)

gnomAD frequency: 0.00009  dbSNP: rs777906405
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756642 SCV000884518 uncertain significance not provided 2017-12-31 criteria provided, single submitter clinical testing The SLC26A2 c.704C>T; p.Ala235Val variant (rs777906405), to our knowledge, is not reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.001% (identified on 3 out of 245,942 chromosomes). The alanine at position 235 is moderately conserved considering 12 species (Alamut software v.2.10.0) and computational analyses of the effects of the p.Ala235Val variant on protein structure and function do not agree (SIFT: tolerated, MutationTaster: disease causing, PolyPhen-2: benign). Based on the available information, it is not possible to predict the clinical significance of the p.Ala235Val variant with confidence.
Genome-Nilou Lab RCV001578821 SCV001806154 uncertain significance Achondrogenesis, type IB 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578822 SCV001806155 uncertain significance Atelosteogenesis type II 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578823 SCV001806156 uncertain significance Diastrophic dysplasia 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578824 SCV001806157 uncertain significance Multiple epiphyseal dysplasia type 4 2021-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002533794 SCV003253432 uncertain significance Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 235 of the SLC26A2 protein (p.Ala235Val). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with SLC26A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 618367). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SLC26A2 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001578821 SCV002081849 uncertain significance Achondrogenesis, type IB 2020-08-12 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.