ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1207C>T (p.Pro403Ser) (rs587778897)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000774704 SCV000908625 likely benign Hereditary cancer-predisposing syndrome 2017-09-16 criteria provided, single submitter clinical testing
Invitae RCV001067467 SCV001232533 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-01-29 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 403 of the MLH1 protein (p.Pro403Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 89677). This variant has been reported not to substantially affect MLH1 protein function (PMID: 20020535, 22753075). 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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