ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.160G>A (p.Gly54Arg) (rs1315572872)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000773535 SCV000907229 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-18 criteria provided, single submitter clinical testing
Invitae RCV001232048 SCV001404592 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-08-07 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 54 of the MLH1 protein (p.Gly54Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 628871). This variant has been reported to affect MLH1 protein function (PMID: 15475387). 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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