ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.425G>T (p.Cys142Phe)

dbSNP: rs1553642098
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039753 SCV001203299 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-05-27 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with phenylalanine at codon 142 of the MLH1 protein (p.Cys142Phe). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and phenylalanine. This variant has not been reported in the literature in individuals with MLH1-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").

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