ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1034_1045del (p.Trp345_Pro349delinsSer) (rs1553353226)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000629805 SCV000750761 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2017-09-19 criteria provided, single submitter clinical testing This variant, c.1034_1045delGGATTAAGCAGC, results in the deletion of 5 amino acids and the insertion of 1 amino acid in the MSH2 protein (p.Trp345_Pro349delinsSer), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MSH2-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. A different missense substitution within the stretch of codons deleted by this variant (p.Pro349Arg) has been determined to be pathogenic (Invitae). This suggests that the p.Pro349 residue is critical for MSH2 protein function and that other missense substitutions or deletions at this position may also be pathogenic. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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