ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.3177G>C (p.Lys1059Asn)

dbSNP: rs1747574274
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002554173 SCV002165206 uncertain significance Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2021-09-04 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals affected with TERT-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with asparagine at codon 1059 of the TERT protein (p.Lys1059Asn). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and asparagine.
Ambry Genetics RCV004558709 SCV005049218 uncertain significance Dyskeratosis congenita 2022-11-18 criteria provided, single submitter clinical testing The p.K1059N variant (also known as c.3177G>C), located in coding exon 15 of the TERT gene, results from a G to C substitution at nucleotide position 3177. The lysine at codon 1059 is replaced by asparagine, 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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