Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000480234 | SCV000565410 | uncertain significance | not provided | 2021-08-03 | criteria provided, single submitter | clinical testing | In frame deletion and insertion of 12 nucleotides resulting in three amino acid substitutions: Tyr519Cys, Ala520Val and Ser523Thr and two synonymous changes at codons 521 and 522; Not observed in large population cohorts (Lek 2016); In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; PMS2 Tyr519Cys and Ala520Val have been reported in individuals with suspected Lynch syndrome, co-occurring with a canonical splice variant in MSH2 in one individual (Yurgelun 2015, Lagerstedt-Robinson 2016); This variant is associated with the following publications: (PMID: 24728327, 26976419, 28912153, 20186688, 22290698, 26232782, 27930734, 25980754, 27601186, 17016615, 24027009) |