ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.959T>C (p.Met320Thr)

gnomAD frequency: 0.00108  dbSNP: rs143550996
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000651112 SCV000772962 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001564499 SCV001787674 uncertain significance not provided 2021-03-02 criteria provided, single submitter clinical testing Identified in two individuals with suspected familial bone marrow failure, one with shortened telomeres that also carried a variant in TERT, and another with normal telomere length (Marsh 2018); In silico analysis supports that this missense variant does not alter protein structure/function; Also known as M320T (c.959T>C); This variant is associated with the following publications: (PMID: 29344583)
Sema4, Sema4 RCV001276035 SCV002535815 uncertain significance Dyskeratosis congenita 2021-09-23 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV001564499 SCV004150975 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276035 SCV001461863 likely benign Dyskeratosis congenita 2020-09-16 no assertion criteria provided clinical testing
Genetic Services Laboratory, University of Chicago RCV003151119 SCV003840010 uncertain significance not specified 2022-05-18 no assertion criteria provided clinical testing DNA sequence analysis of the RTEL1 gene demonstrated a sequence change, c.1031T>C, in exon 12 that results in an amino acid change, p.Met344Thr (cDNA transcript used: NM_032957.4). This sequence change has been described in the gnomAD database with a frequency of 0.22% in the European Finnish subpopulation (dbSNP rs143550996). The p.Met344Thr change affects a poorly conserved amino acid residue located in a domain of the RTEL1 protein that is known to be functional. The p.Met344Thr substitution appears to be benign using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). This sequence change does not appear to have been previously described in individuals with RTEL1-related disorders. Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Met344Thr change remains unknown at this time.

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