ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.219+1G>A

dbSNP: rs199422309
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002513017 SCV002268727 likely pathogenic Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2021-08-04 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with idiopathic pulmonary fibrosis (PMID: 17392301). This variant is also known as IVS1+1G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 12738). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change affects a donor splice site in intron 1 of the TERT gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TERT are known to be pathogenic (PMID: 16247010, 17460043).
GeneDx RCV004700226 SCV005201967 pathogenic not provided 2024-02-08 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 17392301)
OMIM RCV000013575 SCV000033822 pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 2007-03-29 no assertion criteria provided literature only
GeneReviews RCV000032380 SCV000056036 not provided Interstitial lung disease 2 no assertion provided literature only

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