ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3227G>A (p.Cys1076Tyr)

gnomAD frequency: 0.00001  dbSNP: rs781481182
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 RCV002551713 SCV003521407 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 1076 of the RTEL1 protein (p.Cys1076Tyr). This variant is present in population databases (rs781481182, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with RTEL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 813637). 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 tyrosine 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.
Ambry Genetics RCV002549253 SCV003624905 uncertain significance Inborn genetic diseases 2022-05-13 criteria provided, single submitter clinical testing The c.3299G>A (p.C1100Y) alteration is located in exon 32 (coding exon 31) of the RTEL1 gene. This alteration results from a G to A substitution at nucleotide position 3299, causing the cysteine (C) at amino acid position 1100 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center RCV001252848 SCV001163991 uncertain significance Microcephaly no assertion criteria provided research

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.