ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1565G>A (p.Arg522Lys)

dbSNP: rs1751108994
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002570420 SCV003293949 uncertain significance Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2022-05-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 522 of the TERT protein (p.Arg522Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with acute myeloid leukemia (PMID: 19147845). ClinVar contains an entry for this variant (Variation ID: 973675). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TERT protein function. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on TERT function (PMID: 19796246, 23901009). 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.
Baylor Genetics RCV001267799 SCV005052989 uncertain significance Dyskeratosis congenita, autosomal dominant 2 2023-11-30 criteria provided, single submitter clinical testing
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini RCV001267799 SCV001424117 uncertain significance Dyskeratosis congenita, autosomal dominant 2 2020-05-21 no assertion criteria provided clinical testing

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