ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.259T>A (p.Ser87Thr)

gnomAD frequency: 0.00004  dbSNP: rs543685758
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001212907 SCV001384511 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 87 of the RTEL1 protein (p.Ser87Thr). The serine residue is moderately conserved and there is a small physicochemical difference between serine and threonine. This variant is present in population databases (rs543685758, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with RTEL1-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: "Benign"; 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.
Sema4, Sema4 RCV001828698 SCV002535330 uncertain significance Dyskeratosis congenita 2021-05-29 criteria provided, single submitter curation
Ambry Genetics RCV004659396 SCV005161507 uncertain significance Inborn genetic diseases 2024-04-24 criteria provided, single submitter clinical testing The c.259T>A (p.S87T) alteration is located in exon 3 (coding exon 2) of the RTEL1 gene. This alteration results from a T to A substitution at nucleotide position 259, causing the serine (S) at amino acid position 87 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001828698 SCV002095352 uncertain significance Dyskeratosis congenita 2020-05-14 no assertion criteria provided clinical testing

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