Submissions for variant NM_000249.3(MLH1):c.1489C>G (p.Arg497Gly) (rs200830026)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000475157	SCV000543587	uncertain significance	Hereditary nonpolyposis colon cancer	2018-02-19	criteria provided, single submitter	clinical testing	This sequence change replaces arginine with glycine at codon 497 of the MLH1 protein (p.Arg497Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is present in population databases (rs200830026, ExAC 0.01%). This variant has been reported in an individual affected with ovarian cancer (PMID: 23047549). ClinVar contains an entry for this variant (Variation ID: 405404). 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: "Deleterious"; PolyPhen-2: "Benign"; 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.
Color	RCV000774706	SCV000908631	uncertain significance	Hereditary cancer-predisposing syndrome	2018-07-04	criteria provided, single submitter	clinical testing

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