ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.1300del (p.Lys433_Val434insTer)

dbSNP: rs1795015022
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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 RCV001228572 SCV001400975 pathogenic Tumor predisposition syndrome 3 2023-05-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val434*) 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 is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 955861). This variant has not been reported in the literature in individuals affected with POT1-related conditions.
Ambry Genetics RCV002379874 SCV002691162 pathogenic Hereditary cancer-predisposing syndrome 2022-06-27 criteria provided, single submitter clinical testing The c.1300delG pathogenic mutation, located in coding exon 10 of the POT1 gene, results from a deletion of one nucleotide at nucleotide position 1300, causing a translational frameshift with a predicted alternate stop codon (p.V434*). 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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