ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.712T>G (p.Phe238Val)

gnomAD frequency: 0.00002  dbSNP: rs746734591
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001314538 SCV001505074 uncertain significance Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 238 of the SLC26A2 protein (p.Phe238Val). This variant is present in population databases (rs746734591, gnomAD 0.01%). 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: 1015650). 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810723 SCV002050249 uncertain significance not provided 2021-07-16 criteria provided, single submitter clinical testing The SLC26A2 c.712T>G; p.Phe238Val variant (rs746734591), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is reported in ClinVar (Variation ID: 1015650) and is only observed on five alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. The phenylalanine at codon 238 is moderately conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.288). Due to limited information, the clinical significance of this variant is uncertain at this time.
Natera, Inc. RCV001830283 SCV002081850 uncertain significance Achondrogenesis, type IB 2020-05-14 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.