ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1546G>A (p.Asp516Asn)

dbSNP: rs1156765768
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002255837 SCV002533105 uncertain significance Dyskeratosis congenita 2022-02-07 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV003094202 SCV003220410 uncertain significance Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2022-08-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TERT-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 516 of the TERT protein (p.Asp516Asn). ClinVar contains an entry for this variant (Variation ID: 1692099). 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.

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