ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3589G>A (p.Gly1197Ser)

gnomAD frequency: 0.00007  dbSNP: rs545606632
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000704381 SCV000833328 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2022-09-02 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1197 of the RTEL1 protein (p.Gly1197Ser). This variant is present in population databases (rs545606632, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with RTEL1-related conditions. This variant is also known as NM_032957.4:c.3661G>A (p.Gly1221Ser). ClinVar contains an entry for this variant (Variation ID: 580744). 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.
Sema4, Sema4 RCV001830556 SCV002533606 uncertain significance Dyskeratosis congenita 2021-12-22 criteria provided, single submitter curation
Ambry Genetics RCV002536384 SCV003759549 uncertain significance Inborn genetic diseases 2022-08-02 criteria provided, single submitter clinical testing The c.3661G>A (p.G1221S) alteration is located in exon 34 (coding exon 33) of the RTEL1 gene. This alteration results from a G to A substitution at nucleotide position 3661, causing the glycine (G) at amino acid position 1221 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001830556 SCV002095574 uncertain significance Dyskeratosis congenita 2019-11-11 no assertion criteria provided clinical testing

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.