ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.669C>G (p.Tyr223Ter)

dbSNP: rs1307901642
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001936395 SCV002197662 pathogenic Tumor predisposition syndrome 3 2021-07-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with mesothelioma and thyroid cancer (PMID: 30975761). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr223*) in the POT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in POT1 are known to be pathogenic (PMID: 32155570).

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