ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3745G>A (p.Ala1249Thr)

gnomAD frequency: 0.00005  dbSNP: rs201237264
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001448339 SCV001651427 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2023-10-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004958248 SCV005492666 uncertain significance Inborn genetic diseases 2024-11-26 criteria provided, single submitter clinical testing The p.A1249T variant (also known as c.3745G>A), located in coding exon 33 of the RTEL1 gene, results from a G to A substitution at nucleotide position 3745. The alanine at codon 1249 is replaced by threonine, 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.

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