ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1590G>A (p.Pro530=)

gnomAD frequency: 0.00002  dbSNP: rs1396912668
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002544851 SCV000817329 uncertain significance Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2022-09-22 criteria provided, single submitter clinical testing This sequence change affects codon 530 of the TERT mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TERT protein. This variant is present in population databases (no rsID available, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with TERT-related conditions. ClinVar contains an entry for this variant (Variation ID: 569118). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
CeGaT Center for Human Genetics Tuebingen RCV004546551 SCV005042071 uncertain significance not provided 2024-04-01 criteria provided, single submitter clinical testing TERT: PP3

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