ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1324G>A (p.Asp442Asn)

gnomAD frequency: 0.00001  dbSNP: rs780427764
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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 RCV002534795 SCV000944815 uncertain significance Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2022-08-12 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 442 of the TERT protein (p.Asp442Asn). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with aplastic anemia and shortened telomeres (PMID: 30523342). ClinVar contains an entry for this variant (Variation ID: 649847). 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 not expected to disrupt TERT protein function. 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.
GeneDx RCV004588267 SCV005080287 uncertain significance not provided 2024-03-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30523342)

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