ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.354-7C>A (rs758471869)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543974 SCV000625645 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2017-04-25 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 (ExAC no frequency) and has not been reported in the literature in individuals with a PMS2-related disease. Algorithms developed to predict the effect of nucleotide changes on RNA splicing suggest that this intronic variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985909 SCV001134599 uncertain significance not provided 2019-05-08 criteria provided, single submitter clinical testing

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