ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1729G>A (p.Asp577Asn)

gnomAD frequency: 0.00004  dbSNP: rs371161995
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001248617 SCV001422116 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2022-10-12 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 577 of the RTEL1 protein (p.Asp577Asn). This variant is present in population databases (rs371161995, gnomAD 0.006%). 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: 972556). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
GeneDx RCV001760288 SCV001989853 uncertain significance not provided 2019-05-23 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003166564 SCV003864979 uncertain significance Inborn genetic diseases 2023-02-27 criteria provided, single submitter clinical testing The c.1801G>A (p.D601N) alteration is located in exon 21 (coding exon 20) of the RTEL1 gene. This alteration results from a G to A substitution at nucleotide position 1801, causing the aspartic acid (D) at amino acid position 601 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001830045 SCV002095430 uncertain significance Dyskeratosis congenita 2020-01-15 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004545152 SCV004785986 uncertain significance RTEL1-related disorder 2023-12-01 no assertion criteria provided clinical testing The RTEL1 c.1801G>A variant is predicted to result in the amino acid substitution p.Asp601Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0055% of alleles in individuals of East Asian descent in gnomAD. 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.