ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1142G>C (p.Arg381Pro)

gnomAD frequency: 0.00003  dbSNP: rs777343359
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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 RCV002523336 SCV000551528 uncertain significance Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-10-30 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 381 of the TERT protein (p.Arg381Pro). This variant is present in population databases (rs777343359, gnomAD 0.005%). This missense change has been observed in individual(s) with dyskeratosis congenita (PMID: 21931702). ClinVar contains an entry for this variant (Variation ID: 410679). 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 with a positive predictive value of 95%. Experimental studies have shown that this missense change affects TERT function (PMID: 21931702). 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.
Fulgent Genetics, Fulgent Genetics RCV005033988 SCV005672311 uncertain significance Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; Melanoma, cutaneous malignant, susceptibility to, 9 2024-04-17 criteria provided, single submitter clinical testing

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