ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1558_1558+1delinsAA

dbSNP: rs1575554246
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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 RCV001012105 SCV001172520 likely pathogenic Hereditary cancer-predisposing syndrome 2018-04-04 criteria provided, single submitter clinical testing The c.1558_1558+1delGGinsAA variant results from a deletion of a GG and an insertion of AA at positions c.1558_1558+1 in coding exon 13/intron 13 of the MLH1 gene. This nucleotide region is well 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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