ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.161dup (p.Asn54fs)

dbSNP: rs1554429205
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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 RCV000652217 SCV000774085 pathogenic Tumor predisposition syndrome 3 2021-07-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 541873). 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.Asn54Lysfs*10) 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).
CeGaT Center for Human Genetics Tuebingen RCV002263910 SCV002545551 likely pathogenic not provided 2022-05-01 criteria provided, single submitter clinical testing POT1: PVS1:Strong, PM2

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