ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.220-3C>T

dbSNP: rs774658501
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002555910 SCV001236904 uncertain significance Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2019-02-12 criteria provided, single submitter clinical testing 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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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. This variant has not been reported in the literature in individuals with TERT-related conditions. This variant is present in population databases (rs774658501, ExAC 0.02%). This sequence change falls in intron 1 of the TERT gene. It does not directly change the encoded amino acid sequence of the TERT protein, but it affects a nucleotide within the consensus splice site of the intron.

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