ClinVar Miner

Submissions for variant NM_018344.6(SLC29A3):c.269C>T (p.Thr90Ile)

gnomAD frequency: 0.00013  dbSNP: rs138389471
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
Invitae RCV000818619 SCV000959241 uncertain significance H syndrome 2022-04-12 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 90 of the SLC29A3 protein (p.Thr90Ile). This variant is present in population databases (rs138389471, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SLC29A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 661241). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
CeGaT Center for Human Genetics Tuebingen RCV001093314 SCV001250234 uncertain significance not provided 2019-09-01 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000818619 SCV002495961 uncertain significance H syndrome 2021-03-17 criteria provided, single submitter clinical testing SLC29A3 NM_018344.5 exon 2 p.Thr90Ile (c.269C>T): This variant has not been reported in the literature but present in 0.02% (4/15292) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/10-71323023-C-T?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:661241). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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.