ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1667dup (p.Leu556fs) (rs267607694)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000477126 SCV000548147 pathogenic Lynch syndrome 2016-10-29 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 11 of the MSH2 mRNA (c.1667dupT), causing a frameshift at codon 556. This creates a premature translational stop signal (p.Leu556Phefs*6) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic. While this particular variant has not been reported in the literature, a different variant occurring at the same nucleotide (insA at nucleotide 1667) that results in a similar protein effect (frameshift at codon 556, resulting in a premature translational stop signal 6 codons later) has been reported in an individual with Lynch syndrome (PMID: 12095971). For these reasons, this variant has been classified as Pathogenic.

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