ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.-2A>C

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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 RCV002435613 SCV002746989 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-13 criteria provided, single submitter clinical testing The c.-2A>C variant is located in the 5' untranslated region (5’ UTR) of the MLH1 gene. This variant results from an A to C substitution 2 nucleotides upstream from the first translated codon. This nucleotide position is well conserved in available vertebrate species. Based on the available evidence, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004007462 SCV004830031 uncertain significance Lynch syndrome 2023-06-26 criteria provided, single submitter clinical testing This variant is located in the 5' untranslated region of the MLH1 gene. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MLH1-related disorders 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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