ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1896G>A (p.Pro632=)

gnomAD frequency: 0.00001  dbSNP: rs140056333
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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 RCV002525694 SCV000561745 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821375 SCV002066636 likely benign not specified 2020-06-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004559105 SCV002719516 likely benign Dyskeratosis congenita 2022-02-13 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.
CeGaT Center for Human Genetics Tuebingen RCV003431036 SCV004153865 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing TERT: BP4, BP7

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