ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1829G>A (p.Arg610Gln)

gnomAD frequency: 0.00004  dbSNP: rs776763536
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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 RCV002530109 SCV000650709 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004559181 SCV002716274 likely benign Dyskeratosis congenita 2022-01-29 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 RCV003431098 SCV004153866 uncertain significance not provided 2022-09-01 criteria provided, single submitter clinical testing TERT: PP2, BP4

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