ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3592G>A (p.Glu1198Lys)

gnomAD frequency: 0.00005  dbSNP: rs771457769
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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 RCV000793540 SCV000932896 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2022-09-23 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1198 of the RTEL1 protein (p.Glu1198Lys). This variant is present in population databases (rs771457769, gnomAD 0.02%). 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: 640501). 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.
GeneDx RCV004783857 SCV005396347 uncertain significance not provided 2024-05-10 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Observed in a child with severe adenoviral sepsis (PMID: 31826930); This variant is associated with the following publications: (PMID: 31826930)
Natera, Inc. RCV001830696 SCV002095575 uncertain significance Dyskeratosis congenita 2020-02-26 no assertion criteria provided clinical testing

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