ClinVar Miner

Submissions for variant NM_198253.2(TERT):c.1393G>C (p.Val465Leu) (rs758110675)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000765803 SCV000897193 uncertain significance Idiopathic fibrosing alveolitis, chronic form; Aplastic anemia; Dyskeratosis congenita autosomal dominant; 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
Invitae RCV000648900 SCV000770721 uncertain significance Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 2018-10-09 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 465 of the TERT protein (p.Val465Leu). The valine residue is moderately conserved and there is a small physicochemical difference between valine and leucine. This variant is present in population databases (rs758110675, ExAC 0.2%). This variant has been reported in the bone marrow of an individual affected with acute myeloid leukemia (PMID: 23157242). This variant is also known as n.1451G>C in the literature. 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 leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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.

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