ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1839G>T (p.Glu613Asp) (rs876658919)

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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 RCV000221354 SCV000274768 uncertain significance Hereditary cancer-predisposing syndrome 2015-03-26 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000927 SCV001158019 uncertain significance not specified 2018-12-18 criteria provided, single submitter clinical testing The MLH1 c.1839G>T; p.Glu613Asp variant (rs876658919), to our knowledge, is not reported in the medical literature but is reported as uncertain in ClinVar (Variation ID: 231039). This variant is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The glutamate at codon 613 is weakly conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, given the lack of clinical and functional data, the significance of the p.Glu613Asp variant is uncertain at this time.

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