ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2732G>A (p.Arg911Gln) (rs761622304)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560703 SCV000624789 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-10-23 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 911 of the MSH6 protein (p.Arg911Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs761622304, ExAC 0.01%). This variant has been reported in families affected with Lynch syndrome (PMID: 27601186). ClinVar contains an entry for this variant (Variation ID: 455216). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV000566003 SCV000669887 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-02 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Mendelics RCV000708881 SCV000837903 uncertain significance Lynch syndrome 2018-07-02 criteria provided, single submitter clinical testing
Color RCV000566003 SCV001348345 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-07 criteria provided, single submitter clinical testing

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