ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.206G>A (p.Arg69Lys) (rs63751661)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000580736 SCV000684794 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-14 criteria provided, single submitter clinical testing
Invitae RCV000692100 SCV000819908 uncertain significance Hereditary nonpolyposis colon cancer 2018-04-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with lysine at codon 69 of the MLH1 protein (p.Arg69Lys). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the Leiden Open-source Variation Database (PMID: 21520333). Experimental studies have shown that this missense change supports mismatch repair activity with potentially reduced efficiency (PMID: 17510385, 11555625). The clinical significance of these results are 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.

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