ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.513A>G (p.Glu171=)

gnomAD frequency: 0.00001  dbSNP: rs779148982
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001023599 SCV001185501 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-25 criteria provided, single submitter clinical testing The c.513A>G variant (also known as p.E171E), located in coding exon 6 of the MLH1 gene. This variant results from an A to G substitution at nucleotide position 513. This nucleotide substitution does not change the glutamic acid at codon 171. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may weaken the native splice donor site; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001394957 SCV001596655 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-05-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001023599 SCV004359189 likely benign Hereditary cancer-predisposing syndrome 2023-12-04 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003292 SCV004835295 uncertain significance Lynch syndrome 2023-07-10 criteria provided, single submitter clinical testing This synonymous variant causes a nucleotide substitution but does not change the encoded amino acid at codon 171 of the MLH1 protein. Splice site prediction tools suggest that this variant may impact RNA splicing. To our knowledge, functional RNA studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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