ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1022T>C (p.Val341Ala)

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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 RCV003084964 SCV003484232 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 341 of the RTEL1 protein (p.Val341Ala). This variant is present in population databases (rs757889139, gnomAD 0.05%). 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 RCV003093231 SCV003549969 uncertain significance Inborn genetic diseases 2021-01-11 criteria provided, single submitter clinical testing The c.1094T>C (p.V365A) alteration is located in exon 12 (coding exon 11) of the RTEL1 gene. This alteration results from a T to C substitution at nucleotide position 1094, causing the valine (V) at amino acid position 365 to be replaced by an alanine (A). The p.V365A alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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