ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.-35C>T (rs1288448348)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522882 SCV000616786 uncertain significance not provided 2017-04-12 criteria provided, single submitter clinical testing This variant is denoted MSH2 c.-35C>T and describes a nucleotide substitution 35 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. MSH2 c.-35C>T occurs at a position that is not conserved. MSH2 c.-35C>T was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). Based on currently available information, it is unclear whether MSH2 c.-35C>T is pathogenic or benign. We consider it to be a variant of uncertain significance.

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