ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.-8G>T (rs1064795641)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000775786 SCV000910234 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-16 criteria provided, single submitter clinical testing
GeneDx RCV000483429 SCV000571634 uncertain significance not specified 2016-09-12 criteria provided, single submitter clinical testing This variant is denoted MSH2 c.-8G>T and describes a nucleotide substitution 8 base pairs upstream of the ATG translational start site in the 5' untranslated region (UTR). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. This variant does not appear to affect the start codon or the Kozak translational consensus sequence. MSH2 c.-8G>T occurs at a position that is not conserved. MSH2 c.-8G>T 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. Based on currently available information, it is unclear whether MSH2 c.-8G>T is pathogenic or benign. We consider it to be a variant of uncertain significance.

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