ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.433G>A (p.Ala145Thr)

gnomAD frequency: 0.00021  dbSNP: rs201163893
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 RCV000633668 SCV000754929 uncertain significance Multiple gastrointestinal atresias 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 145 of the TTC7A protein (p.Ala145Thr). This variant is present in population databases (rs201163893, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with TTC7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 528463). 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 TTC7A 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.
Ambry Genetics RCV003352950 SCV004056228 uncertain significance Inborn genetic diseases 2023-08-15 criteria provided, single submitter clinical testing The c.433G>A (p.A145T) alteration is located in exon 3 (coding exon 3) of the TTC7A gene. This alteration results from a G to A substitution at nucleotide position 433, causing the alanine (A) at amino acid position 145 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003420096 SCV004113121 uncertain significance TTC7A-related disorder 2022-12-22 criteria provided, single submitter clinical testing The TTC7A c.433G>A variant is predicted to result in the amino acid substitution p.Ala145Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.043% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-47184062-G-A). 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.