ClinVar Miner

Submissions for variant NM_198253.2(TERT):c.1234C>T (p.His412Tyr) (rs34094720)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000425346 SCV000511855 likely benign not provided 2016-11-15 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000218461 SCV000706965 likely benign not specified 2017-03-31 criteria provided, single submitter clinical testing
GeneReviews RCV000032365 SCV000056021 pathologic Aplastic anemia 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.
Genetic Services Laboratory, University of Chicago RCV000218461 SCV000597454 likely benign not specified 2016-11-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000032365 SCV000452694 likely benign Aplastic anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262966 SCV000452695 likely benign Dyskeratosis Congenita, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318265 SCV000452696 likely benign Idiopathic fibrosing alveolitis, chronic form 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000234686 SCV000291844 benign Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 2018-01-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000218461 SCV000270914 likely benign not specified 2015-02-24 criteria provided, single submitter clinical testing p.His412Tyr in exon 2 of TERT: This variant is not expected to have clinical sig nificance because it has been identified in 1.5% (115/7512) of European chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs34094720). In addition, the histidine (His) residue at position 412 is no t conserved in mammals and other evolutionarily distant species, and the change to tyrosine (Tyr) is present in 2 mammals.
OMIM RCV000013567 SCV000033814 pathogenic Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 2008-02-01 no assertion criteria provided literature only
OMIM RCV000190902 SCV000245776 pathogenic Dyskeratosis congenita, autosomal recessive, 4 2008-02-01 no assertion criteria provided literature only

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