ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.159G>C (p.Gln53His) (rs1060503006)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463592 SCV000551532 uncertain significance Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant, 2 2020-05-27 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 53 of the TERT protein (p.Gln53His). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and histidine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with TERT-related conditions. ClinVar contains an entry for this variant (Variation ID: 410683). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Fulgent Genetics,Fulgent Genetics RCV000764568 SCV000895656 uncertain significance Idiopathic Pulmonary Fibrosis; Aplastic anemia; Dyskeratosis congenita, autosomal dominant 1; Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant, 2; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1; Cutaneous malignant melanoma 9 2018-10-31 criteria provided, single submitter clinical testing

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