ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.327G>A (p.Gly109=)

dbSNP: rs1060504786
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501954 SCV000597456 likely benign not specified 2016-07-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005208921 SCV001703098 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2021-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004559096 SCV002611475 likely benign Dyskeratosis congenita 2020-01-22 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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