ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2652C>T (p.Leu884=)

gnomAD frequency: 0.00004  dbSNP: rs374309472
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002530147 SCV000650754 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-05 criteria provided, single submitter clinical testing
GeneDx RCV001770465 SCV002004262 uncertain significance not provided 2019-12-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Ambry Genetics RCV002456204 SCV002739436 likely benign Dyskeratosis congenita; Hereditary cancer-predisposing syndrome 2022-07-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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