ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1580G>T (p.Gly527Val)

gnomAD frequency: 0.00002  dbSNP: rs1006357203
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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 RCV002555892 SCV001235235 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004559900 SCV005049061 uncertain significance Dyskeratosis congenita 2024-02-02 criteria provided, single submitter clinical testing The p.G527V variant (also known as c.1580G>T), located in coding exon 3 of the TERT gene, results from a G to T substitution at nucleotide position 1580. The glycine at codon 527 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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