ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.3164G>A (p.Ser1055Asn)

dbSNP: rs1577755565
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000822969 SCV000963801 uncertain significance Gastrointestinal stromal tumor 2018-10-11 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PDGFRA-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with asparagine at codon 1055 of the PDGFRA protein (p.Ser1055Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine.

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