Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001379751 | SCV001577611 | likely pathogenic | Gastrointestinal stromal tumor | 2021-07-11 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of GIST-plus syndrome (PMID: 17087943, Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 13552). This variant has been reported to affect PDGFRA protein function (PMID: 17087943). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This sequence change replaces tyrosine with cysteine at codon 555 of the PDGFRA protein (p.Tyr555Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. |
OMIM | RCV000014511 | SCV000034762 | pathogenic | Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal | 2006-12-01 | no assertion criteria provided | literature only |