ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.289T>G (p.Tyr97Asp) (rs1553640297)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563845 SCV000669586 uncertain significance Hereditary cancer-predisposing syndrome 2016-10-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000820188 SCV000960889 uncertain significance Hereditary nonpolyposis colon cancer 2018-10-11 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with aspartic acid at codon 97 of the MLH1 protein (p.Tyr97Asp). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with colorectal cancer (PMID: 24344984, 28874130). ClinVar contains an entry for this variant (Variation ID: 483568). Experimental studies have shown that this missense change results in diminished mismatch repair activity of the MLH1 protein (PMID: 29520894). 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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