ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.940G>T (p.Val314Phe) (rs863224639)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196782 SCV000254375 uncertain significance Lynch syndrome 2015-06-05 criteria provided, single submitter clinical testing This sequence change replaces valine with phenylalanine at codon 314 of the MLH1 protein (p.Val314Phe). The valine residue is highly conserved and there is a small physicochemical difference between valine and phenylalanine. This variant has not been published in the literature and is not present in population databases. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000215533 SCV000273272 uncertain significance Hereditary cancer-predisposing syndrome 2017-11-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence

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