ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.869C>T (p.Ala290Val)

gnomAD frequency: 0.00008  dbSNP: rs202157063
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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 RCV001441796 SCV001644733 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-12-05 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256779 SCV002535808 uncertain significance Dyskeratosis congenita 2022-01-26 criteria provided, single submitter curation
Ambry Genetics RCV004952900 SCV005487351 uncertain significance Inborn genetic diseases 2024-12-04 criteria provided, single submitter clinical testing The p.A290V variant (also known as c.869C>T), located in coding exon 9 of the RTEL1 gene, results from a C to T substitution at nucleotide position 869. The alanine at codon 290 is replaced by valine, 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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