ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1937G>A (p.Arg646His)

gnomAD frequency: 0.00001  dbSNP: rs779338296
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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 RCV002530114 SCV000650716 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-10-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004559182 SCV002720796 uncertain significance Dyskeratosis congenita 2022-01-27 criteria provided, single submitter clinical testing The p.R646H variant (also known as c.1937G>A), located in coding exon 4 of the TERT gene, results from a G to A substitution at nucleotide position 1937. The arginine at codon 646 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. 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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