ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.2534A>G (p.His845Arg)

gnomAD frequency: 0.00002  dbSNP: rs777679907
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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 RCV000456448 SCV000546590 uncertain significance Gastrointestinal stromal tumor 2024-01-14 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 845 of the PDGFRA protein (p.His845Arg). This variant is present in population databases (rs777679907, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. ClinVar contains an entry for this variant (Variation ID: 407395). 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 disruptive. 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.
Ambry Genetics RCV002451100 SCV002740042 likely benign Hereditary cancer-predisposing syndrome 2021-11-21 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 RCV003476047 SCV004200962 uncertain significance Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 2023-06-22 criteria provided, single submitter clinical testing

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