ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2813G>A (p.Arg938Gln)

dbSNP: rs199741493
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002536010 SCV000964880 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-12-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV001293959 SCV001482671 uncertain significance Dyskeratosis congenita, autosomal dominant 2 2020-11-18 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV003222148 SCV003918352 uncertain significance not provided 2022-10-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004538131 SCV004106229 uncertain significance TERT-related disorder 2023-03-28 criteria provided, single submitter clinical testing The TERT c.2813G>A variant is predicted to result in the amino acid substitution p.Arg938Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.015% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-1264549-C-T). It is interpreted as uncertain significance in ClinVar (https://preview.ncbi.nlm.nih.gov/clinvar/variation/665677/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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