ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.354-15G>T

dbSNP: rs1250216615
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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 RCV001186597 SCV001353060 likely benign Hereditary cancer-predisposing syndrome 2019-05-23 criteria provided, single submitter clinical testing
Invitae RCV002559940 SCV003003064 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2023-08-11 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the PMS2 gene. It does not directly change the encoded amino acid sequence of the PMS2 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PMS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 924938). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
All of Us Research Program, National Institutes of Health RCV004008615 SCV004840768 likely benign Lynch syndrome 2023-12-18 criteria provided, single submitter clinical testing

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