ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.454-10T>G

gnomAD frequency: 0.00001  dbSNP: rs1260098414
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506460 SCV000601401 uncertain significance not specified 2017-01-31 criteria provided, single submitter clinical testing
Invitae RCV001392293 SCV001593935 likely benign Hereditary nonpolyposis colorectal neoplasms 2020-09-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003543 SCV004828817 uncertain significance Lynch syndrome 2023-09-17 criteria provided, single submitter clinical testing This variant causes a T to G nucleotide substitution at the -10 position of intron 5/18 of the MLH1 gene. Splice site prediction tools predict that this variant may have an impact on RNA splicing. To our knowledge, RNA 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 been identified in 2/251128 chromosomes 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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