ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.804-10T>G (rs267608151)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000589847 SCV000697380 uncertain significance not provided 2016-05-20 criteria provided, single submitter clinical testing Variant summary: c.804-10T>G in PMS2 gene is an intronic change that involves a non-conserved nucleotide. 3/5 programs in Alamut predict this variant to generate an alternative cryptic site, however no functional studies supporting this notion were published at the time of evaluation. The variant is absent from the control population dataset of ExAC but was identified in 1 NHPCC with isolated loss on PMS2 staining. The variant of interest has been cited by reputable databases/clinical laboratory as VUS. Taking together the variant was classified as VUS until additional information becomes available.
Invitae RCV000630112 SCV000751068 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-08-17 criteria provided, single submitter clinical testing This sequence change falls in intron 7 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). This variant has been observed in an individual affected with a Lynch syndrome-associated tumor (PMID: 18602922). ClinVar contains an entry for this variant (Variation ID: 91370). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000589847 SCV001134615 uncertain significance not provided 2019-01-25 criteria provided, single submitter clinical testing

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