ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2834A>T (p.Asp945Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004559604 SCV002748438 uncertain significance Dyskeratosis congenita 2015-01-27 criteria provided, single submitter clinical testing The p.D945V variant (also known as c.2834A>T), located in coding exon 11 of the TERT gene, results from an A to T substitution at nucleotide position 2834. The aspartic acid at codon 945 is replaced by valine, an amino acid with highly dissimilar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6237 samples (12474 alleles) with coverage at this position. This amino acid position is well conserved in available vertebrate species.In addition, this alteration is predicted to be deleterious by in silico analysis. Since clinical data on this variant is limited at this time, its clinical significance is unclear.

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