ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.2536G>T (p.Asp846Tyr)

dbSNP: rs121908588
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Total submissions: 3
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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 (DoCM) RCV000442350 SCV000504985 likely pathogenic Gastrointestinal stromal tumor 2015-07-14 no assertion criteria provided literature only

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