ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.628G>A (p.Ala210Thr)

dbSNP: rs1751225599
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334734 SCV001527662 uncertain significance Dyskeratosis congenita, autosomal dominant 2 2018-04-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546696 SCV002233659 uncertain significance Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2022-11-14 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1032592). This variant has not been reported in the literature in individuals affected with TERT-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 210 of the TERT protein (p.Ala210Thr). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004557542 SCV002655942 uncertain significance Dyskeratosis congenita 2022-01-28 criteria provided, single submitter clinical testing The p.A210T variant (also known as c.628G>A), located in coding exon 2 of the TERT gene, results from a G to A substitution at nucleotide position 628. The alanine at codon 210 is replaced by threonine, 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.
PreventionGenetics, part of Exact Sciences RCV004531119 SCV004112980 uncertain significance TERT-related disorder 2022-11-11 criteria provided, single submitter clinical testing The TERT c.628G>A variant is predicted to result in the amino acid substitution p.Ala210Thr. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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