ClinVar Miner

Submissions for variant NM_198253.3(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
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.
Invitae RCV001082297 SCV000291844 benign Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000032365 SCV000452694 likely benign Aplastic anemia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000262966 SCV000452695 likely benign Dyskeratosis congenita, autosomal dominant, 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000013567 SCV000452696 likely benign Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
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.
Genetic Services Laboratory,University of Chicago RCV000218461 SCV000597454 benign not specified 2018-11-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000218461 SCV000706965 likely benign not specified 2017-03-31 criteria provided, single submitter clinical testing
OMIM RCV000013567 SCV000033814 pathogenic Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 2008-02-01 no assertion criteria provided literature only
GeneReviews RCV000032365 SCV000056021 pathologic Aplastic anemia 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000190902 SCV000245776 pathogenic Dyskeratosis congenita, autosomal recessive, 4 2008-02-01 no assertion criteria provided literature only

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