ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1645G>A (p.Ala549Thr)

dbSNP: rs1408202470
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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 RCV001360328 SCV001556242 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 549 of the RTEL1 protein (p.Ala549Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with hypoplastic myelodysplastic syndrome (PMID: 29344583). 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 threonine 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. RCV001831199 SCV002095427 uncertain significance Dyskeratosis congenita 2020-06-25 no assertion criteria provided clinical testing

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