ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1269C>A (p.Ala423=)

dbSNP: rs190411812
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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 RCV002518364 SCV000291845 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000501224 SCV000597453 likely benign not specified 2016-03-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437031 SCV004153871 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing TERT: BP4, BP7
Ambry Genetics RCV004822023 SCV005512326 likely benign Dyskeratosis congenita 2024-10-28 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.

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