ClinVar Miner

Submissions for variant NC_000003.12:g.(?_37048507)_(37049027_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001031922 SCV001195229 pathogenic Hereditary nonpolyposis colorectal neoplasms 2019-04-10 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 17-18 of the MLH1 gene. It preserves the integrity of the reading frame. Similar deletion of exons 17-18 has not been reported in the literature in individuals with MLH1-related conditions. This variant disrupts the C-terminal PMS2 interaction domain of the MLH1 protein, which is necessary for proper MLH1-PMS2 dimerization and normal protein functioning (PMID: 10037723, 11793442, 16083711). This suggests that disruption of this region of the protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.

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