ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.2993C>T (p.Pro998Leu)

gnomAD frequency: 0.00001  dbSNP: rs368344044
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 RCV001053558 SCV001217826 uncertain significance Dyskeratosis congenita 2019-03-22 criteria provided, single submitter clinical testing This variant is present in population databases (rs368344044, ExAC 0.005%). This variant has not been reported in the literature in individuals with CTC1-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: "Deleterious"; 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. This sequence change replaces proline with leucine at codon 998 of the CTC1 protein (p.Pro998Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine.
Ambry Genetics RCV004031687 SCV004850981 uncertain significance Inborn genetic diseases 2023-10-10 criteria provided, single submitter clinical testing The c.2993C>T (p.P998L) alteration is located in exon 18 (coding exon 18) of the CTC1 gene. This alteration results from a C to T substitution at nucleotide position 2993, causing the proline (P) at amino acid position 998 to be replaced by a leucine (L). 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.