ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.-43G>C (rs781492698)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000271860 SCV000430906 uncertain significance Lynch syndrome I 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000482775 SCV000568073 uncertain significance not provided 2017-12-11 criteria provided, single submitter clinical testing This variant is denoted MSH2 c.-43G>C, and describes a nucleotide substitution 43 base pairs upstream of the MSH2 ATG translational start site in the 5' untranslated region (UTR). The surrounding sequence, with the base that is substituted in brackets, is TGTG[G/C]GGTC. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. This variant was not observed at a significant allele frequency in large population cohorts (Lek 2016). The Guanine (G) nucleotide that is altered is conserved across species. Based on currently available evidence, it is unclear whether MSH2 c.-43G>C is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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