ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.200G>T (p.Gly67Val) (rs63749939)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000984470 SCV000999005 uncertain significance Lynch syndrome II 2019-09-10 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 2 of the MLH1 gene that results in the amino acid substitution of Valine for Glycine at codon 67 was detected. The observed variant c.200G>T (p.Gly67Val) has not been reported in the 1000 genomes and ExAC databases. The in silico prediction of the variant is damaging by SIFT, LRT, MutationTaster2, Mutation Assessor and FATHMM. Three other missense variants p.Gly67Trp, p.Gly67Glu and p.Gly67Arg altering the same codon as the identified variant has been reported as pathogenic in ClinVar database with respect to Lynch syndrome. The said variant alters a highly conserved residue and is predicted to be damaging to the protein function.

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