ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.902dup (p.Val302fs)

dbSNP: rs1784291698
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001231607 SCV001404135 pathogenic Hereditary nonpolyposis colorectal neoplasms 2019-08-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). This variant has not been reported in the literature in individuals with PMS2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val302Glyfs*7) in the PMS2 gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV002375234 SCV002683528 likely pathogenic Hereditary cancer-predisposing syndrome 2019-03-13 criteria provided, single submitter clinical testing The c.902dupA variant, located in coding exon 8 of the PMS2 gene, results from a duplication of A at nucleotide position 902, causing a translational frameshift with a predicted alternate stop codon (p.V302Gfs*7). 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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