ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1520A>C (p.Asp507Ala)

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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 RCV002619325 SCV003497084 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2022-07-15 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 507 of the RTEL1 protein (p.Asp507Ala). This variant is present in population databases (rs745723707, gnomAD 0.0009%). 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 RCV004961095 SCV005492618 uncertain significance Inborn genetic diseases 2024-11-23 criteria provided, single submitter clinical testing The p.D507A variant (also known as c.1520A>C), located in coding exon 17 of the RTEL1 gene, results from an A to C substitution at nucleotide position 1520. The aspartic acid at codon 507 is replaced by alanine, an amino acid with dissimilar 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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