ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2155G>A (p.Asp719Asn)

gnomAD frequency: 0.00001  dbSNP: rs781231332
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503248 SCV000596847 uncertain significance not specified 2015-08-24 criteria provided, single submitter clinical testing
Counsyl RCV000674759 SCV000800151 uncertain significance Dyskeratosis congenita, autosomal recessive 5 2018-05-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000819303 SCV000959956 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 aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 719 of the RTEL1 protein (p.Asp719Asn). This variant is present in population databases (rs781231332, gnomAD 0.04%). This missense change has been observed in individual(s) with dyskeratosis congenita (DC) and pulmonary arteriovenous malformations (PAVMs) (PMID: 27824607). ClinVar contains an entry for this variant (Variation ID: 436588). 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.
Natera, Inc. RCV001272649 SCV001454888 uncertain significance Dyskeratosis congenita 2020-09-16 no assertion criteria provided clinical testing

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