ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.457+3A>G (rs1060502921)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469871 SCV000551184 uncertain significance Lynch syndrome 2016-06-24 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780463 SCV000917732 uncertain significance not specified 2018-02-09 criteria provided, single submitter clinical testing Variant summary: MSH6 c.457+3A>G alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 splice prediction tools predict no significant effect to normal splicing. However, these predictions have yet to be evaluated by functional studies. The variant was absent in 245942 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.457+3A>G in individuals affected with Lynch Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Ambry Genetics RCV001022718 SCV001184486 likely benign Hereditary cancer-predisposing syndrome 2019-10-25 criteria provided, single submitter clinical testing In silico models in agreement (benign);RNA Studies

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