ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1393G>C (p.Val465Leu)

gnomAD frequency: 0.00003  dbSNP: rs758110675
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002533376 SCV000770721 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765803 SCV000897193 uncertain significance Interstitial lung disease 2; Aplastic anemia; Dyskeratosis congenita, autosomal dominant 1; Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; Melanoma, cutaneous malignant, susceptibility to, 9 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV003236829 SCV003935618 uncertain significance not provided 2023-05-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Reported as n.1451G>C, observed in a bone marrow sample in an individual with acute myeloid leukemia (Yan et al., 2013); This variant is associated with the following publications: (PMID: 26298771, 23157242)
PreventionGenetics, part of Exact Sciences RCV003980260 SCV004793006 uncertain significance TERT-related condition 2023-11-17 criteria provided, single submitter clinical testing The TERT c.1393G>C variant is predicted to result in the amino acid substitution p.Val465Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.15% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-1293608-C-G). It has conflicting interpretations in ClinVar of likely benign and uncertain significance (https://preview.ncbi.nlm.nih.gov/clinvar/variation/539202/). Although we suspect that this variant may be benign, 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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