ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.1474C>G (p.Leu492Val)

dbSNP: rs28756983
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000690198 SCV000817877 uncertain significance Colorectal cancer, hereditary nonpolyposis, type 7 2024-02-12 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 492 of the MLH3 protein (p.Leu492Val). This variant is present in population databases (rs28756983, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with MLH3-related conditions. ClinVar contains an entry for this variant (Variation ID: 569542). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV005010681 SCV005635798 uncertain significance Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer 2024-06-13 criteria provided, single submitter clinical testing

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