ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.29T>C (p.Val10Ala)

dbSNP: rs781404006
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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 RCV001971543 SCV002259928 uncertain significance Gastrointestinal stromal tumor 2021-03-22 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 10 of the PDGFRA protein (p.Val10Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PDGFRA-related conditions. This variant is not present in population databases (ExAC no frequency).

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