ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.163+5G>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002288300 SCV002579763 uncertain significance Lynch syndrome 4 2021-12-22 criteria provided, single submitter clinical testing
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV002288300 SCV004035270 likely pathogenic Lynch syndrome 4 no assertion criteria provided clinical testing The detected alteration is not reported in the dbSNP database (dbSNP151) yet. It is not yet listed in gnomAD (as of 09/14/2023). The variant affects a Cartegni consensus splice site. Splicing prediction programs predict an impact on splicing behavior for the variant (Splice Site Finder Like (SSF): -14.5% and MaxEntScan (MES): -59.2%). In the ClinVar database, the variant has been previously reported once (in the context of HNPCC) and is classified as a "variant of unclear clinical significance" (ClinVar ID: 1707370). To our knowledge, the variant has not been previously reported in the literature in association with CMMRD Based on current knowledge, the variant should be classified as a "likely pathogenic variant" based on the ACMG criteria. (14.09.2023)

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