ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.132G>T (p.Arg44Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003338082 SCV004046983 uncertain significance Endometrial carcinoma criteria provided, single submitter clinical testing The missense variant in c.132G>T (p.Arg44Ser) in MLH3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant has not been reported to the ClinVar database. This variant is reported with the allele frequency (0.0004%) in the gnomad and novel in 1000 genome database. The amino acid Arg at position 44 is changed to a Ser changing protein sequence and it might alter its composition and physicochemical properties. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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