ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3802-7_3802-4delTCTT (rs876661171)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491776 SCV000580092 likely pathogenic Hereditary cancer-predisposing syndrome 2017-03-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,RNA Studies,Other data supporting pathogenic classification,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Moderate segregation with disease (at least 3 informative meioses) for rare diseases.
Color RCV000491776 SCV000904155 likely pathogenic Hereditary cancer-predisposing syndrome 2018-07-16 criteria provided, single submitter clinical testing
GeneDx RCV000219815 SCV000279708 uncertain significance not provided 2018-07-10 criteria provided, single submitter clinical testing This variant is denoted MSH6 c.3802-7_3802-4delTCTT or IVS8-7_IVS8-4delTCTT and consists of a deletion of four nucleotides at the -4 through -7 positions in intron 8 of the MSH6 gene. The normal sequence with the bases that are deleted in brackets is tctt[deltctt]aagG, where the capital letters are exonic and lowercase are intronic. Using alternate nomenclature, this variant may be defined as c.3802-13_3802-10delTTTC. In silico analyses, which include splice predictors and evolutionary conservation, are inconsistent in their assessment as to whether or not the variant is damaging. This variant was not observed at a significant allele frequency in large population cohorts (Lek 2016).This variant has not, to our knowledge, been published in the literature as either a pathogenic germline variant or a benign polymorphism. Based on the currently available information, we consider MSH6 c.3802-7_3802-4delTCTT to be a variant of uncertain significance.

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