ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.3038G>A (p.Ser1013Asn)

dbSNP: rs1307047645
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000793741 SCV000933109 uncertain significance Gastrointestinal stromal tumor 2018-08-27 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: "Deleterious"; 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 1013 of the PDGFRA protein (p.Ser1013Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine.
Baylor Genetics RCV004569520 SCV005055193 uncertain significance Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 2023-11-17 criteria provided, single submitter clinical testing

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