ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.451del (p.Arg151fs)

dbSNP: rs1562689635
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000776800 SCV000912452 pathogenic Hereditary cancer-predisposing syndrome 2017-11-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000776800 SCV002633410 pathogenic Hereditary cancer-predisposing syndrome 2019-04-11 criteria provided, single submitter clinical testing The c.451delC pathogenic mutation, located in coding exon 5 of the PMS2 gene, results from a deletion of one nucleotide at nucleotide position 451, causing a translational frameshift with a predicted alternate stop codon (p.R151Afs*50). 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.
Myriad Genetics, Inc. RCV003453608 SCV004187717 pathogenic Lynch syndrome 4 2023-09-18 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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