ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.3089C>G (p.Thr1030Arg)

gnomAD frequency: 0.00004  dbSNP: rs377419542
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002533393 SCV000770743 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004559292 SCV002608805 uncertain significance Dyskeratosis congenita 2022-08-30 criteria provided, single submitter clinical testing The p.T1030R variant (also known as c.3089C>G), located in coding exon 14 of the TERT gene, results from a C to G substitution at nucleotide position 3089. The threonine at codon 1030 is replaced by arginine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004533396 SCV004117906 uncertain significance TERT-related disorder 2022-11-08 criteria provided, single submitter clinical testing The TERT c.3089C>G variant is predicted to result in the amino acid substitution p.Thr1030Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0083% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-1255470-G-C). In ClinVar, this variant is interpreted as uncertain (https://preview.ncbi.nlm.nih.gov/clinvar/variation/539224/). 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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