ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.622_627dup (p.Gly208_Asp209dup) (rs1553350958)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457919 SCV000548196 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-11-19 criteria provided, single submitter clinical testing This sequence change inserts 6 nucleotides in exon 3 of the MSH2 mRNA (c.622_627dupGGAGAC). This leads to the insertion of 2 amino acid residues in the MSH2 protein (p.Gly208_Asp209dup) 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 an MSH2-related disease. Experimental studies regarding the potential impact that insertion of these amino acid residues has on protein function have not been reported. In summary, this is a rare in-frame codon gain with uncertain impact on protein function. In the absence of segregation or functional data, it has been classified as a Variant of Uncertain Significance.

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