ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.684C>T (p.Ala228=)

gnomAD frequency: 0.00001  dbSNP: rs1403152390
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001489326 SCV001693868 likely benign Interstitial lung disease 2; Dyskeratosis congenita, autosomal dominant 2 2021-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004559826 SCV005048970 likely benign Dyskeratosis congenita 2024-01-19 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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