ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.69A>T (p.Glu23Asp) (rs63750555)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411283 SCV000489685 uncertain significance Lynch syndrome II 2016-11-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV001025892 SCV001188169 likely pathogenic Hereditary cancer-predisposing syndrome 2013-08-21 criteria provided, single submitter clinical testing Deficient protein function in appropriate functional assay(s);Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV001236964 SCV001409707 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-11-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 23 of the MLH1 protein (p.Glu23Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MLH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 90335). This variant has been reported to affect MLH1 protein function (PMID: 17510385, 17210669). 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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