ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.1122G>C (p.Arg374Ser)

gnomAD frequency: 0.00183  dbSNP: rs61735622
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230967 SCV000289147 benign Gastrointestinal stromal tumor 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000336391 SCV000449734 likely benign Idiopathic hypereosinophilic syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000230967 SCV000449735 likely benign Gastrointestinal stromal tumor 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Ambry Genetics RCV001009892 SCV001170017 likely benign Hereditary cancer-predisposing syndrome 2018-12-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Sema4, Sema4 RCV001009892 SCV002538541 likely benign Hereditary cancer-predisposing syndrome 2021-05-30 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003965025 SCV004776529 likely benign PDGFRA-related condition 2021-12-30 criteria provided, single submitter 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).
ITMI RCV000121801 SCV000085999 not provided not specified 2013-09-19 no assertion provided reference population

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