ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.457G>A (p.Glu153Lys)

dbSNP: rs1553642660
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000613429 SCV000712861 uncertain significance not specified 2017-02-20 criteria provided, single submitter clinical testing The p.Glu153Lys variant in MLH1 has not been previously reported in individuals with colorectal cancer and was absent from large population studies. Computation al prediction tools and conservation analysis suggest that the p.Glu153Lys varia nt may impact the protein, though this information is not predictive enough to d etermine pathogenicity. In summary, the clinical significance of the p.Glu153Lys variant is uncertain.

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