ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1077A>T (p.Arg359Ser) (rs63751617)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076034 SCV000107048 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability >0.99
Invitae RCV001230748 SCV001403238 pathogenic Hereditary nonpolyposis colorectal neoplasms 2019-10-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 359 of the MSH2 protein (p.Arg359Ser). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate in a Lynch syndrome family (PMID: 17165155), and identified in individuals affected with Lynch syndrome (PMID: 18781619, 11870161). ClinVar contains an entry for this variant (Variation ID: 90539). This variant has been reported to affect MSH2 protein function (PMID: 18781619, 17720936). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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