ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3029C>T (p.Thr1010Met)

dbSNP: rs750539539
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001240680 SCV001413649 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 threonine with methionine at codon 1010 of the RTEL1 protein (p.Thr1010Met). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is not present in population databases (ExAC no frequency). 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 (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.
Ambry Genetics RCV004960622 SCV005492742 uncertain significance Inborn genetic diseases 2024-11-30 criteria provided, single submitter clinical testing The p.T1010M variant (also known as c.3029C>T), located in coding exon 30 of the RTEL1 gene, results from a C to T substitution at nucleotide position 3029. The threonine at codon 1010 is replaced by methionine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Natera, Inc. RCV001834127 SCV002095527 uncertain significance Dyskeratosis congenita 2020-10-22 no assertion criteria provided clinical testing

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