ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.790+1_790+2delinsTA

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002416655 SCV002677250 likely pathogenic Hereditary cancer-predisposing syndrome 2020-07-20 criteria provided, single submitter clinical testing The c.790+1_790+2delGTinsTA variant results from a deletion of two nucleotides and insertion of two nucleotides at positions c.790+1 and c.790+2 and involves the canonical splice donor site after coding exon 9 of the MLH1 gene. The canonical splice donor site is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native donor splice site; however, direct evidence is unavailable. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic.

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