ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.-11C>A

gnomAD frequency: 0.00001  dbSNP: rs1225209597
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004005256 SCV004818002 likely benign Lynch syndrome 2023-04-28 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001357905 SCV001553505 uncertain significance Malignant tumor of breast no assertion criteria provided clinical testing The MSH6 c.-11C>A variant was not identified in the literature. The variant was identified in dbSNP (rs1225209597) but was not identified in the ClinVar and UMD-LSDB databases. The variant was not identified in the following control databases: the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The variant occurs outside of the splicing consensus sequence and 4 of 4 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) predict a greater than 10% difference in splicing. However, this information is not predictive enough to assume pathogenicity. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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