ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1078G>T (p.Val360Phe) (rs878853775)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231957 SCV000284004 uncertain significance Lynch syndrome 2016-03-12 criteria provided, single submitter clinical testing This sequence change replaces valine with phenylalanine at codon 360 of the MLH1 protein (p.Val360Phe). The valine residue is weakly conserved and there is a small physicochemical difference between valine and phenylalanine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MLH1-related disease. 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, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Color RCV000580764 SCV000684714 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-02 criteria provided, single submitter clinical testing

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