ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2744G>A (p.Gly915Asp)

gnomAD frequency: 0.00002  dbSNP: rs202033269
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002530150 SCV000650757 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-12-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV001788284 SCV002030239 uncertain significance Dyskeratosis congenita, autosomal dominant 2 2021-02-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Baylor Genetics RCV001788284 SCV005052968 uncertain significance Dyskeratosis congenita, autosomal dominant 2 2024-02-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005034104 SCV005672280 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 2024-06-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543199 SCV004773660 uncertain significance TERT-related disorder 2024-01-12 no assertion criteria provided clinical testing The TERT c.2744G>A variant is predicted to result in the amino acid substitution p.Gly915Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.026% of alleles in individuals of Latino descent in gnomAD. It is interpreted as uncertain significance in ClinVar (https://preview.ncbi.nlm.nih.gov/clinvar/variation/471875/). 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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