ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.416T>G (p.Leu139Arg)

dbSNP: rs1579598547
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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 RCV002535996 SCV000964577 uncertain significance Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-03-18 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 139 of the TERT protein (p.Leu139Arg). 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: 665427). This missense change has been observed in individual(s) with pulmonary fibrosis (PMID: 28192371). This variant is not present in population databases (gnomAD no frequency).
Garcia Pulmonary Genetics Research Laboratory, Columbia University Irving Medical Center RCV002509557 SCV002547420 likely risk allele Pulmonary fibrosis 2022-06-09 no assertion criteria provided research Leukocyte telomere length (by qPCR) less than 10th percentile age-adjusted

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