ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1818_1877del (p.Ser607_Glu626del) (rs1553368576)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465070 SCV000548283 uncertain significance Lynch syndrome 2016-11-23 criteria provided, single submitter clinical testing This sequence change deletes 60 nucleotides from exon 12 of the MSH2 mRNA (c.1818_1877del). This leads to the deletion of 20 amino acid residues in the MSH2 protein (p.Ser607_Glu626del) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MSH2-related disease. Experimental studies and prediction algorithms are not available for this variant. However, this deletion affects a region encoding the EXO1 and MSH6 interaction domains known to be important for the mismatch repair function of the MSH2 protein (PMID: 18822302, 9774676) In summary, this is a novel in-frame deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Color RCV000582422 SCV000690021 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-04 criteria provided, single submitter clinical testing

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