ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.4002-11_4002-10del (rs59056100)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000222560 SCV000279348 uncertain significance not specified 2015-12-02 criteria provided, single submitter clinical testing This variant is denoted MSH6 c.4002-13_4002-12delTTinsAA or IVS9-13_IVS9-12delTTinsAA and consists of a deletion and insertion of two nucleotides at the -13 and -12 positions of intron 9 of the MSH6 gene.The normal sequence, with the bases that are deleted in braces and inserted in brackets, is tttt{tt}[aa]ttaa.Multiple in silico models predict this variant to destroy the nearby natural acceptor site, 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.4002-13_4002-12delTTinsAA 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.This variant has not, to our knowledge, been published in the literature as pathogenic or benign.The nucleotides that are altered are not conserved.Based on currently available information, it is unclear whether MSH6 c.4002-13_4002-12delTTinsAA is pathogenic or benign.We consider it to be a variant of uncertain significance.
Mendelics RCV000986752 SCV001135867 likely benign Hereditary nonpolyposis colorectal cancer type 5 2019-05-28 criteria provided, single submitter clinical testing

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