ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.2358C>T (p.Asn786=)

gnomAD frequency: 0.00001  dbSNP: rs749224305
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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 RCV001414991 SCV001617140 likely benign Gastrointestinal stromal tumor 2019-09-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160663 SCV003863323 likely benign Hereditary cancer-predisposing syndrome 2022-12-23 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.

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