ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.150G>A (p.Leu50=) (rs886044153)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000385403 SCV000343673 uncertain significance not provided 2016-08-19 criteria provided, single submitter clinical testing
Invitae RCV000700864 SCV000829639 uncertain significance Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant, 2 2020-08-19 criteria provided, single submitter clinical testing This sequence change affects codon 50 of the TERT mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TERT protein. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with TERT-related disease. ClinVar contains an entry for this variant (Variation ID: 289326). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics RCV000764569 SCV000895657 uncertain significance Idiopathic Pulmonary Fibrosis; Aplastic anemia; Dyskeratosis congenita, autosomal dominant 1; Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant, 2; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1; Cutaneous malignant melanoma 9 2018-10-31 criteria provided, single submitter clinical testing

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