ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2221G>A (p.Val741Met)

dbSNP: rs150819225
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002530132 SCV000650737 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2025-01-11 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768106 SCV000899021 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 2021-03-30 criteria provided, single submitter clinical testing TERT NM_198253.2 exon 6 p.Val741Met (c.2221G>A): This variant has not been reported in the literature, but it is present in 3/24032 of African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/5-1278821-C-T). This variant is present in ClinVar (Variation ID: 471857). This variant amino acid, Methionine (Met), is present in three mammalian species (Gorilla, Pika, Panda) and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant are insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
GeneDx RCV001559069 SCV001781140 uncertain significance not provided 2023-08-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Identified in individuals with myeloid neoplasia (Gurnari et al., 2022); This variant is associated with the following publications: (PMID: 35106810)
Ambry Genetics RCV004559190 SCV002729690 uncertain significance Dyskeratosis congenita 2022-02-12 criteria provided, single submitter clinical testing The p.V741M variant (also known as c.2221G>A), located in coding exon 6 of the TERT gene, results from a G to A substitution at nucleotide position 2221. The valine at codon 741 is replaced by methionine, an amino acid with highly 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.
Baylor Genetics RCV003470765 SCV004208109 uncertain significance Dyskeratosis congenita, autosomal dominant 2 2024-02-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000768106 SCV005672297 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 2024-01-18 criteria provided, single submitter clinical testing

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