ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.631dup (p.His211fs)

dbSNP: rs2116525878
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002046716 SCV002108393 pathogenic Tumor predisposition syndrome 3 2022-09-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1348991). 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.His211Profs*15) 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 RCV002359284 SCV002655224 pathogenic Hereditary cancer-predisposing syndrome 2021-03-24 criteria provided, single submitter clinical testing The c.631dupC pathogenic mutation, located in coding exon 5 of the POT1 gene, results from a duplication of C at nucleotide position 631, causing a translational frameshift with a predicted alternate stop codon (p.H211Pfs*15). 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.