ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3584C>T (p.Ala1195Val)

gnomAD frequency: 0.00004  dbSNP: rs778286683
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002258593 SCV002533604 uncertain significance Dyskeratosis congenita 2021-09-25 criteria provided, single submitter curation
Ambry Genetics RCV002346560 SCV002618958 uncertain significance Inborn genetic diseases 2021-12-13 criteria provided, single submitter clinical testing The p.A1219V variant (also known as c.3656C>T), located in coding exon 33 of the RTEL1 gene, results from a C to T substitution at nucleotide position 3656. The alanine at codon 1219 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003094238 SCV003522573 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-01-30 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1195 of the RTEL1 protein (p.Ala1195Val). This variant is present in population databases (rs778286683, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with RTEL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1692633). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.

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