ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.1422G>A (p.Thr474=)

gnomAD frequency: 0.00003  dbSNP: rs149899465
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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 RCV000226440 SCV000289160 likely benign Gastrointestinal stromal tumor 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV001011517 SCV001171847 likely benign Hereditary cancer-predisposing syndrome 2019-04-12 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.
GeneDx RCV002461005 SCV002757238 uncertain significance not provided 2022-11-21 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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