Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000442350 | SCV000944874 | uncertain significance | Gastrointestinal stromal tumor | 2018-08-19 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has been observed to segregate with gastrointestinal stromal tumor in a family (PMID: 14699510). ClinVar contains an entry for this variant (Variation ID: 13551). This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with tyrosine at codon 846 of the PDGFRA protein (p.Asp846Tyr). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and tyrosine. Experimental studies have shown that this missense change does not confer resistance to kinase inhibitors in comparison with wild-type PDGFRA protein (PMID: 22745105). |
OMIM | RCV000014510 | SCV000034761 | pathogenic | Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal | 2004-01-01 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000442350 | SCV000504985 | likely pathogenic | Gastrointestinal stromal tumor | 2015-07-14 | no assertion criteria provided | literature only |