ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.895G>A (p.Val299Met)

gnomAD frequency: 0.00001  dbSNP: rs756624928
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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 RCV002536948 SCV000932210 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-09-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477800 SCV002778306 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 2021-08-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004822198 SCV005512321 uncertain significance Dyskeratosis congenita 2024-07-30 criteria provided, single submitter clinical testing The p.V299M variant (also known as c.895G>A), located in coding exon 2 of the TERT gene, results from a G to A substitution at nucleotide position 895. The valine at codon 299 is replaced by methionine, an amino acid with highly similar properties. This variant was reported as heterozygous in multiple individuals with features consistent with TERT-related disorder (Calado RT et al. Proc Natl Acad Sci U S A, 2009 Jan;106:1187-92; Mirabello L et al. JAMA Oncol, 2020 May;6:724-734). Functional studies suggest that the variant has no major effect on telomerase activity; however, additional evidence is needed to confirm these findings (Calado RT et al. Proc Natl Acad Sci U S A, 2009 Jan;106:1187-92; Zaug AJ et al. Nucleic Acids Res, 2013 Oct;41:8969-78). This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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