ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1514T>A (p.Leu505Gln)

gnomAD frequency: 0.00001  dbSNP: rs1344847833
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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 RCV002530102 SCV000650701 uncertain significance Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2021-11-26 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. 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 expected to disrupt TERT protein function. ClinVar contains an entry for this variant (Variation ID: 471824). This variant has not been reported in the literature in individuals affected with TERT-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces leucine, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 505 of the TERT protein (p.Leu505Gln).
Ambry Genetics RCV004559176 SCV002708563 uncertain significance Dyskeratosis congenita 2022-08-16 criteria provided, single submitter clinical testing The p.L505Q variant (also known as c.1514T>A), located in coding exon 2 of the TERT gene, results from a T to A substitution at nucleotide position 1514. The leucine at codon 505 is replaced by glutamine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003476299 SCV004203631 uncertain significance Dyskeratosis congenita, autosomal dominant 2 2023-08-14 criteria provided, single submitter clinical testing

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