ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.527A>G (p.Gln176Arg)

gnomAD frequency: 0.00001  dbSNP: rs139217250
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000633840 SCV000755113 uncertain significance Gastrointestinal stromal tumor 2023-07-19 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. 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: 528618). This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. This variant is present in population databases (rs139217250, gnomAD 0.004%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 176 of the PDGFRA protein (p.Gln176Arg).
Ambry Genetics RCV001023851 SCV001185783 likely benign Hereditary cancer-predisposing syndrome 2024-03-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Baylor Genetics RCV003471987 SCV004200915 uncertain significance Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 2023-09-06 criteria provided, single submitter clinical testing

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