ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.-3G>C (rs587779960)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000589085 SCV000149400 uncertain significance not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is denoted MSH2 c.-3G>C and describes a nucleotide substitution 3 base pairs upstream of the ATG translational start site in the 5' untranslated region (UTR). The surrounding sequence, with the base that is substituted in brackets, is TTTC[G/C]ACAT. This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. However, the substitution occurs in the Kozak sequence, the conserved nucleotides just upstream of the ATG start codon which play a major role in the initiation of translation. This variant was not observed at a significant allele frequency in large population cohorts (Lek 2016). Based on currently available evidence, it is unclear whether MSH2 c.-3G>C is pathogenic or benign. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000115491 SCV000187134 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-29 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Counsyl RCV000410255 SCV000488439 uncertain significance Lynch syndrome I 2016-03-29 criteria provided, single submitter clinical testing
Color RCV000115491 SCV000684890 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-03 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589085 SCV000696266 uncertain significance not provided 2015-12-07 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000589085 SCV000889438 uncertain significance not provided 2019-08-14 criteria provided, single submitter clinical testing

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