ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.860G>C (p.Gly287Ala)

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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 RCV004559444 SCV002676395 uncertain significance Dyskeratosis congenita 2022-05-30 criteria provided, single submitter clinical testing The p.G287A variant (also known as c.860G>C), located in coding exon 2 of the TERT gene, results from a G to C substitution at nucleotide position 860. The glycine at codon 287 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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