ClinVar Miner

Submissions for variant NM_198253.2(TERT):c.430G>A (p.Val144Met) (rs199422291)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000256024 SCV000322340 pathogenic not provided 2016-03-18 criteria provided, single submitter clinical testing The V144M variant in the TERT gene has been published previously in association with familial pulmonary fibrosis and lung disease (Diaz et al., 2010; Tsakiri et al., 2007). The variant was not observed in approximately 6,100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position within the GQ motif of the TEN domain that is not conserved. However, functional studies have shown that while V144M does not affect activity of the TERT protein, it prevents localization of the protein to telomeres, resulting in telomere shortening (Zhong et al., 2012).
GeneReviews RCV000032397 SCV000056053 pathologic Idiopathic fibrosing alveolitis, chronic form 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.