ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1652T>C (p.Val551Ala)

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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 RCV004559500 SCV002707065 uncertain significance Dyskeratosis congenita 2022-09-28 criteria provided, single submitter clinical testing The p.V551A variant (also known as c.1652T>C), located in coding exon 3 of the TERT gene, results from a T to C substitution at nucleotide position 1652. The valine at codon 551 is replaced by alanine, an amino acid with 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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