ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1477C>G (p.Gln493Glu)

gnomAD frequency: 0.00002  dbSNP: rs372871657
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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 RCV000651103 SCV000772953 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 493 of the RTEL1 protein (p.Gln493Glu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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 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.
Breakthrough Genomics, Breakthrough Genomics RCV004692036 SCV005195081 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001829810 SCV002095421 uncertain significance Dyskeratosis congenita 2021-06-14 no assertion criteria provided clinical testing

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