ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.502G>C (p.Val168Leu)

dbSNP: rs752270672
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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 RCV000687645 SCV000815227 uncertain significance Gastrointestinal stromal tumor 2023-03-13 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 567533). This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 168 of the PDGFRA protein (p.Val168Leu).
Baylor Genetics RCV003472187 SCV004200932 uncertain significance Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 2023-08-15 criteria provided, single submitter clinical testing

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