ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1732-14T>G

dbSNP: rs2085283188
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001190926 SCV001358569 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-10 criteria provided, single submitter clinical testing This variant causes a T to G nucleotide substitution at the -14 position of intron 15 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.
Invitae RCV002560096 SCV003495687 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-22 criteria provided, single submitter clinical testing

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