ClinVar Miner

Submissions for variant NM_198253.2(TERT):c.3268G>A (p.Val1090Met) (rs121918664)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000032394 SCV000056050 pathologic Aplastic anemia 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.
Invitae RCV000551770 SCV000650772 uncertain significance Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 2018-11-08 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 1090 of the TERT protein (p.Val1090Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs121918664, ExAC 0.03%). This variant has been observed in an individual affected with aplastic anaemia, and an unrelated individual affected with hepatocellular carcinoma, but was also observed in one healthy individual (PMID: 15814878, 28813500 19561322). ClinVar contains an entry for this variant (Variation ID: 12733). Experimental studies using a cell model have shown that this variant results in a reduction of telomerase activity (PMID: 15814878, 23901009, 19561322, 26365799, 28813500, 28154186). 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.
Mendelics RCV000708946 SCV000838054 uncertain significance Hereditary Cancer Syndrome 2018-07-02 criteria provided, single submitter clinical testing
OMIM RCV000013570 SCV000033817 pathogenic Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 2005-04-07 no assertion criteria provided literature only

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