ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.543C>G (p.Gly181=)

dbSNP: rs1481129490
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000781999 SCV000920459 likely pathogenic Lynch syndrome 2018-10-18 reviewed by expert panel curation Patient RNA and minigene test: skip exon 6 (out of frame), no full length transcript ({PMID26247049:Klift vd et al., 2015})
Myriad Genetics, Inc. RCV003453614 SCV004185894 likely pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-14 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. mRNA analysis has demonstrated abnormal mRNA splicing occurs [Myriad internal data].

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