ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.380_380+1insTAT

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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 RCV003172145 SCV003858920 likely pathogenic Hereditary cancer-predisposing syndrome 2023-02-28 criteria provided, single submitter clinical testing The c.380_380+1insTAT intronic variant, results from an insertion of 3 nucleotides (TAT) between nucleotide positions c.380 and c.380+1 after coding exon 4 of the MLH1 gene. In silico splice site analysis predicts that this alteration will weaken the native splice donor site and will result in the creation or strengthening of a novel splice donor site. RNA studies have demonstrated that this alteration results in abnormal splicing in the set of samples tested (Ambry internal data). Based on the majority of available evidence to date, this variant is likely to be pathogenic.
Myriad Genetics, Inc. RCV003455775 SCV004189441 likely pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-13 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function.

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