ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2052C>T (p.Asp684=)

gnomAD frequency: 0.00003  dbSNP: rs768948796
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003103808 SCV000650726 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004559186 SCV002724466 likely benign Dyskeratosis congenita 2022-03-11 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.
Breakthrough Genomics, Breakthrough Genomics RCV004711171 SCV005259071 likely benign not provided criteria provided, single submitter not provided
CeGaT Center for Human Genetics Tuebingen RCV004711171 SCV005436333 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing TERT: BP4, BP7

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