Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035185 | SCV000058827 | likely pathogenic | Marfan syndrome | 2010-12-06 | criteria provided, single submitter | clinical testing | The 4016G>C (Cys1339Ser) variant has not been previously reported in the literat ure or been identified by our laboratory. Another variant at this position, Cys1 339Tyr, has been reported in an individual with Marfan syndrome (Loeys 2001). Th is variant affects a cysteine residue; cysteine substitutions are a common findi ng in individuals with Marfan syndrome (Schrijver 1999). Cystine at amino acid p osition 1339 is highly conserved across evolutionarily distinct species. Therefo re, this variant is likely to be pathogenic. |
Centre of Medical Genetics, |
RCV000035185 | SCV002025293 | pathogenic | Marfan syndrome | 2021-03-01 | criteria provided, single submitter | research | PM2, PVS2, PP4 |