ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1099G>A (p.Val367Ile) (rs80285180)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546747 SCV000625226 uncertain significance Hereditary nonpolyposis colon cancer 2018-11-07 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 367 of the MSH2 protein (p.Val367Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is not present in population databases (rs80285180, ExAC no frequency). This variant has been observed in an individual affected with pancreatic cancer (PMID: 19728162). ClinVar contains an entry for this variant (Variation ID: 455471). Experimental studies have shown that this missense change does not affect the mismatch repair activity of the MSH2 protein (PMID: 19728162, 22581703). 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.
Color RCV000776438 SCV000911924 likely benign Hereditary cancer-predisposing syndrome 2017-01-23 criteria provided, single submitter clinical testing

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