ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1228G>T (p.Gly410Cys)

gnomAD frequency: 0.00002  dbSNP: rs866955014
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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 RCV001247851 SCV001421302 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 410 of the RTEL1 protein (p.Gly410Cys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RTEL1-related conditions. This variant is also known as p.Gly434Cys. ClinVar contains an entry for this variant (Variation ID: 971942). 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: "Deleterious"; 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.
Natera, Inc. RCV001835311 SCV002095407 uncertain significance Dyskeratosis congenita 2020-04-24 no assertion criteria provided clinical testing

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