ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.1071del (p.Gln358fs)

dbSNP: rs1562981913
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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 RCV000698781 SCV000827467 pathogenic Tumor predisposition syndrome 3 2021-08-04 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 576311). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with POT1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln358Asnfs*9) 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).
The Telomere Center at Johns Hopkins, Johns Hopkins University School of Medicine RCV003329328 SCV003853315 pathogenic Long telomere syndrome 2022-08-01 no assertion criteria provided clinical testing

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