ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.1538A>G (p.Asn513Ser)

gnomAD frequency: 0.00008  dbSNP: rs200137653
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 RCV000545623 SCV000630964 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 513 of the TTC21B protein (p.Asn513Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs200137653, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with TTC21B-related conditions. ClinVar contains an entry for this variant (Variation ID: 459285). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Fulgent Genetics, Fulgent Genetics RCV002483378 SCV002792088 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2024-05-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004722885 SCV005340370 uncertain significance TTC21B-related disorder 2024-07-16 no assertion criteria provided clinical testing The TTC21B c.1538A>G variant is predicted to result in the amino acid substitution p.Asn513Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.