ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1646C>T (p.Ala549Val)

dbSNP: rs752494712
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001929220 SCV002202941 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2021-10-12 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals affected with RTEL1-related conditions. This variant is present in population databases (rs752494712, ExAC 0.002%). This sequence change replaces alanine with valine at codon 549 of the RTEL1 protein (p.Ala549Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine.

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