ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3173-10_3173-6del (rs781520783)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081009 SCV000254306 likely benign Hereditary nonpolyposis colorectal neoplasms 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000483976 SCV000569055 uncertain significance not provided 2015-12-23 criteria provided, single submitter clinical testing This variant is denoted MSH6 c.3173-10_3173-6delCTTTT or IVS4-10_IVS4-6delCTTTT and consists of a deletion of five nucleotides at the -10 to -6 positions in intron 4 of the MSH6 gene. The normal sequence with the bases that are deleted in braces is ctct[ctttt]aaca. Multiple in silico models predict this variant to damage the splice acceptor site in intron 4, and to possibly cause abnormal gene splicing. However, in the absence of RNA or functional studies, the actual effect of this variant is unknown. MSH6 c.3173-10_3173-6delCTTTT was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant has not, to our knowledge, been published in the literature as a variant or as a benign polymorphism. The nucleotides that are deleted are not conserved across species. Based on the currently available information, we consider MSH6 c.3173-10_3173-6delCTTTT to be a variant of uncertain significance.
Color RCV000580955 SCV000685361 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-13 criteria provided, single submitter clinical testing
Counsyl RCV000663016 SCV000786034 likely benign Hereditary nonpolyposis colorectal cancer type 5 2018-02-08 criteria provided, single submitter clinical testing

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