ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.686A>G (p.Glu229Gly) (rs587782591)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131930 SCV000186985 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000630110 SCV000751066 uncertain significance Hereditary nonpolyposis colon cancer 2017-08-14 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 229 of the MSH6 protein (p.Glu229Gly). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with colorectal cancer (PMID: 21056691). ClinVar contains an entry for this variant (Variation ID: 142618). An algorithm developed specifically for the MSH6 gene suggests that this missense change is likely to be tolerated (PMID: 23621914). However, this prediction has not been confirmed by published functional studies and its clinical significance is uncertain. 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 RCV000131930 SCV000908355 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-31 criteria provided, single submitter clinical testing

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