ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.516C>T (p.Tyr172=)

gnomAD frequency: 0.00002  dbSNP: rs1046079554
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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 RCV000470111 SCV000558247 likely benign Gastrointestinal stromal tumor 2023-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341089 SCV002644919 likely benign Hereditary cancer-predisposing syndrome 2022-05-18 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.
Salgia Laboratory, City of Hope RCV003322606 SCV003804209 uncertain significance Lung sarcomatoid carcinoma no assertion criteria provided clinical testing

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