ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.848_849del (p.Asn282_Ser283insTer)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002447637 SCV002680815 pathogenic Hereditary cancer-predisposing syndrome 2022-03-04 criteria provided, single submitter clinical testing The c.848_849delCT pathogenic mutation, located in coding exon 6 of the POT1 gene, results from a deletion of two nucleotides at nucleotide positions 848 to 849, causing a translational frameshift with a predicted alternate stop codon (p.S283*). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003746629 SCV004512559 pathogenic Tumor predisposition syndrome 3 2023-07-20 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser283*) 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). This variant has not been reported in the literature in individuals affected with POT1-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1763542).

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