ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.260+2T>A

dbSNP: rs1553408469
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004017688 SCV004848287 likely pathogenic Lynch syndrome 2019-10-14 criteria provided, single submitter clinical testing The c.260+2T>A variant in MSH6 has not been previously reported in individuals with Lynch syndrome or in large population studies but has been reported by other clinical laboratories in ClinVar (Variation ID 492704). This variant occurs within the canonical splice site (+/- 1,2) and is predicted to cause altered splicing leading to an abnormal or absent protein. Heterozygous loss-of-function of the MSH6 gene is an established disease mechanism in individuals with Lynch syndrome. In summary, this variant meets criteria to be classified as likely pathogenic for autosomal dominant Lynch syndrome based upon predicted impact to the protein and absence in controls. ACMG/AMP criteria applied: PVS1, PM2.
Mayo Clinic Laboratories, Mayo Clinic RCV000583128 SCV000691916 likely pathogenic not provided no assertion criteria provided clinical testing

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