ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.1060_1063del (p.Gln354fs)

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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 RCV003020669 SCV003301002 pathogenic Tumor predisposition syndrome 3 2022-11-08 criteria provided, single submitter clinical testing 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 (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln354Lysfs*12) 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).
Ambry Genetics RCV004654084 SCV005150660 pathogenic Hereditary cancer-predisposing syndrome 2024-04-09 criteria provided, single submitter clinical testing The c.1060_1063delCAAA pathogenic mutation, located in coding exon 9 of the POT1 gene, results from a deletion of 4 nucleotides at nucleotide positions 1060 to 1063, causing a translational frameshift with a predicted alternate stop codon (p.Q354Kfs*12). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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