ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.637G>T (p.Val213Leu) (rs2308317)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000627709 SCV000543572 uncertain significance Hereditary nonpolyposis colon cancer 2018-11-08 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 213 of the MLH1 protein (p.Val213Leu). The valine residue is moderately conserved and there is a small physicochemical difference between valine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in individuals affected with hereditary non-polyposis colorectal cancer (HNPCC) (PMID: 16810763) and sporadic colorectal cancer (PMID: 17074586). ClinVar contains an entry for this variant (Variation ID: 90300). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Color RCV000774696 SCV000908610 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-11 criteria provided, single submitter clinical testing

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