ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.3304C>A (p.Gln1102Lys)

gnomAD frequency: 0.00002  dbSNP: rs1042447238
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002525585 SCV000551520 uncertain significance Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 1102 of the TERT protein (p.Gln1102Lys). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with TERT-related conditions. ClinVar contains an entry for this variant (Variation ID: 410672). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
GeneDx RCV001753901 SCV002005133 uncertain significance not provided 2024-09-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004559081 SCV002612130 uncertain significance Dyskeratosis congenita 2024-12-06 criteria provided, single submitter clinical testing The p.Q1102K variant (also known as c.3304C>A), located in coding exon 16 of the TERT gene, results from a C to A substitution at nucleotide position 3304. The glutamine at codon 1102 is replaced by lysine, 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.
Baylor Genetics RCV003463951 SCV004205825 uncertain significance Dyskeratosis congenita, autosomal dominant 2 2023-10-30 criteria provided, single submitter clinical testing

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