ClinVar Miner

Submissions for variant NM_001062.4(TCN1):c.344A>T (p.Asp115Val)

dbSNP: rs780641711
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001339846 SCV001533621 uncertain significance Transcobalamin I deficiency 2020-09-09 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 115 of the TCN1 protein (p.Asp115Val). The aspartic acid residue is weakly conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is present in population databases (rs780641711, ExAC 0.09%). This variant has not been reported in the literature in individuals with TCN1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV004035914 SCV003952330 uncertain significance not specified 2023-04-19 criteria provided, single submitter clinical testing The c.344A>T (p.D115V) alteration is located in exon 3 (coding exon 3) of the TCN1 gene. This alteration results from a A to T substitution at nucleotide position 344, causing the aspartic acid (D) at amino acid position 115 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.