ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3646+2T>G

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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 RCV002346632 SCV002618929 likely pathogenic Hereditary cancer-predisposing syndrome 2020-05-19 criteria provided, single submitter clinical testing The c.3646+2T>G intronic variant results from a T to G substitution two nucleotides after coding exon 7 in the MSH6 gene. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice donor site; however, direct evidence is unavailable. Based on the majority of available evidence to date, this variant is likely to be pathogenic.
Myriad Genetics, Inc. RCV003454129 SCV004189292 likely pathogenic Lynch syndrome 5 2023-08-24 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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