ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2240del (p.Val747fs)

dbSNP: rs199422300
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001560896 SCV001783391 pathogenic not provided 2019-11-19 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Functional studies demonstrate decreased telomerase activity and indicate a damaging effect of c.2240delT on protein product and function (Tsakiri et al., 2007); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 17460043)
OMIM RCV000013574 SCV000033821 pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 2007-05-01 no assertion criteria provided literature only
GeneReviews RCV000032381 SCV000056037 not provided Interstitial lung disease 2 no assertion provided literature only
Garcia Pulmonary Genetics Research Laboratory, Columbia University Irving Medical Center RCV002509154 SCV002547344 likely risk allele Pulmonary fibrosis 2022-06-09 no assertion criteria provided research

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