ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2080G>A (p.Val694Met) (rs121918662)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001216134 SCV001387911 uncertain significance Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 2019-05-08 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 694 of the TERT protein (p.Val694Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with aplastic anemia and an individual with pulmonary fibrosis (PMID: 15814878, 18635888). ClinVar contains an entry for this variant (Variation ID: 12731). This variant has been reported to affect TERT protein function (PMID: 15814878, 23901009). 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.
OMIM RCV000013568 SCV000033815 pathogenic Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 2005-04-07 no assertion criteria provided literature only
GeneReviews RCV000032373 SCV000056029 pathologic Aplastic anemia 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.

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