ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1618T>G (p.Ser540Ala)

dbSNP: rs863225130
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Center for Mendelian Genomics, University of Washington RCV000201743 SCV000256240 pathogenic Interstitial lung disease 2 2015-05-19 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002517308 SCV003443387 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2022-01-03 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 540 of the RTEL1 protein (p.Ser540Ala). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with familial interstitial pneumonia (PMID: 25607374). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 217520). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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