ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.238T>G (p.Phe80Val) (rs63749990)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075601 SCV000106598 likely pathogenic Lynch syndrome I 2018-06-13 reviewed by expert panel curation Variant reclassification due to new tumour Likelihood Ratios: Multifactorial likelihood analysis posterior probability > 0.95 (0.981)
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091798 SCV001248015 pathogenic not provided 2017-01-01 criteria provided, single submitter clinical testing
Invitae RCV001379075 SCV001576807 likely pathogenic Hereditary nonpolyposis colorectal neoplasms 2020-10-21 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with valine at codon 80 of the MLH1 protein (p.Phe80Val). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Lynch syndrome (PMID: 11726306, 21404117). ClinVar contains an entry for this variant (Variation ID: 90115). This variant has been reported to affect MLH1 protein function (PMID: 21404117, 16083711, 17510385). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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