Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035169 | SCV000058811 | likely pathogenic | Marfan syndrome | 2010-12-06 | criteria provided, single submitter | clinical testing | The 3413G>T (Cys1138Phe) variant has not been previously reported in the literat ure or been identified by our laboratory. Four other variants at this amino aci d position, Cys1138Arg, Cys1138Gly, Cys1138Tyr, and Cys1138Ser, have been report ed in individuals with clinical features consistent with Marfan syndrome (Sthene ur 2009, Comeglio 2009). This variant affects a cysteine residue and cysteine su bstitutions are a common finding in individuals with Marfan syndrome (Schrijver 1999). Cystine at amino acid position 3413 is highly conserved across different species. Therefore, this variant is likely to be pathogenic. |
Centre of Medical Genetics, |
RCV000035169 | SCV002025279 | pathogenic | Marfan syndrome | 2021-03-01 | criteria provided, single submitter | research | PM2, PVS2, PP4 |