ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.4002-10T>G (rs545466048)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479661 SCV000567276 uncertain significance not provided 2017-08-07 criteria provided, single submitter clinical testing This variant is denoted MSH6 c.4002-10T>G or IVS9-10T>G and consists of a T>G nucleotide substitution at the -10 position of intron 9 of the MSH6 gene. Multiple in silico models predict this variant to destroy the nearby natural acceptor site, and to possibly cause abnormal gene splicing. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. MSH6 c.4002-10T>G was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The nucleotide that is altered is not conserved across species. Based on currently available information, it is unclear whether MSH6 c.4002-10T>G is pathogenic or benign. We consider it to be a variant of uncertain significance.
Invitae RCV001081841 SCV000751377 likely benign Hereditary nonpolyposis colorectal neoplasms 2019-12-31 criteria provided, single submitter clinical testing

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