ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3608G>A (p.Ser1203Asn)

dbSNP: rs2145479866
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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 RCV001372649 SCV001569329 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 1203 of the RTEL1 protein (p.Ser1203Asn). The serine residue is weakly conserved and there is a small physicochemical difference between serine and asparagine. This variant is not present in population databases (ExAC no frequency). 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 (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.
Natera, Inc. RCV001826104 SCV002095576 uncertain significance Dyskeratosis congenita 2020-08-24 no assertion criteria provided clinical testing

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