ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2250C>T (p.Ala750=)

gnomAD frequency: 0.00001  dbSNP: rs941567959
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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 RCV002537539 SCV001044902 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-10-27 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256589 SCV002533127 likely benign Dyskeratosis congenita 2021-06-07 criteria provided, single submitter curation
Ambry Genetics RCV002256589 SCV002733439 likely benign Dyskeratosis congenita 2022-05-26 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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