ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2746G>A (p.Gly916Ser)

dbSNP: rs1189683846
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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 RCV002548055 SCV002123980 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-09-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004558679 SCV002748957 uncertain significance Dyskeratosis congenita 2018-10-24 criteria provided, single submitter clinical testing The p.G916S variant (also known as c.2746G>A), located in coding exon 11 of the TERT gene, results from a G to A substitution at nucleotide position 2746. The glycine at codon 916 is replaced by serine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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