ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1595C>T (p.Ala532Val)

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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 RCV004560110 SCV003869002 uncertain significance Dyskeratosis congenita 2022-11-16 criteria provided, single submitter clinical testing The p.A532V variant (also known as c.1595C>T), located in coding exon 3 of the TERT gene, results from a C to T substitution at nucleotide position 1595. The alanine at codon 532 is replaced by valine, 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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