ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3629A>G (p.His1210Arg)

dbSNP: rs1601199974
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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 RCV000809225 SCV000949368 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 histidine with arginine at codon 1210 of the RTEL1 protein (p.His1210Arg). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and arginine. 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. RCV001825614 SCV002095578 uncertain significance Dyskeratosis congenita 2020-07-13 no assertion criteria provided clinical testing

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