Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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, |
RCV000583128 | SCV000691916 | likely pathogenic | not provided | no assertion criteria provided | clinical testing |