ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2007G>A (p.Arg669=)

dbSNP: rs1060504788
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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 RCV003089066 SCV002481237 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2022-05-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004558901 SCV002720468 likely benign Dyskeratosis congenita 2020-09-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224621 SCV003920546 likely benign Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; Melanoma, cutaneous malignant, susceptibility to, 9 2022-10-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature and is not present in large control databases. This variant is present in ClinVar (Variation ID: 1670589). This is a silent variant and does not change the amino acid and is not predicted to impact splicing; additionally, this nucleotide position is not well-conserved evolutionarily, reducing the probability that this variant is disease-causing. In summary, data on this variant suggests that this variant does not cause disease but requires further evidence. Therefore, this variant is classified as likely benign.

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