ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.1494C>A (p.Ala498=)

dbSNP: rs200434193
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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 RCV000874628 SCV001016824 likely benign Gastrointestinal stromal tumor 2023-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390827 SCV002700478 likely benign Hereditary cancer-predisposing syndrome 2022-04-09 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.
PreventionGenetics, part of Exact Sciences RCV003895351 SCV004709706 likely benign PDGFRA-related disorder 2023-12-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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