ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.466T>C (p.Phe156Leu) (rs1060500691)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567499 SCV000662045 uncertain significance Hereditary cancer-predisposing syndrome 2016-12-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000567499 SCV000911132 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-02 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000709932 SCV000840289 not provided Lynch syndrome II no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Invitae RCV000460506 SCV000543556 uncertain significance Hereditary nonpolyposis colon cancer 2018-03-08 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 156 of the MLH1 protein (p.Phe156Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MLH1-related disease. ClinVar contains an entry for this variant (Variation ID: 405394). 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 C15"). 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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