ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2419G>A (p.Asp807Asn)

gnomAD frequency: 0.00001  dbSNP: rs1169312254
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002568705 SCV003010308 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-03-31 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV003229617 SCV003927235 uncertain significance Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 2023-03-13 criteria provided, single submitter clinical testing This TERT missense variant (rs1169312254) is rare (<0.1%) in a large population dataset (gnomAD v2.1.1: 2/279758 total alleles; 0.0007%; no homozygotes). It has been reported in ClinVar (Variation ID 973676) but has not been reported in the literature, to our knowledge. Two bioinformatic tools queried predict that this substitution would be tolerated, and the aspartic acid residue at this position is evolutionarily conserved across many of the species assessed, but several species have a different amino acid this position including some species with asparagine. We consider the clinical significance of c.2419G>A; p.Asp807Asn in TERT to be uncertain at this time.
Ambry Genetics RCV004822340 SCV005512370 uncertain significance Dyskeratosis congenita 2024-10-21 criteria provided, single submitter clinical testing The p.D807N variant (also known as c.2419G>A), located in coding exon 8 of the TERT gene, results from a G to A substitution at nucleotide position 2419. The aspartic acid at codon 807 is replaced by asparagine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini RCV001267800 SCV001424118 uncertain significance Dyskeratosis congenita, autosomal dominant 2 2020-05-21 no assertion criteria provided clinical testing

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