ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.275C>T (p.Ala92Val)

gnomAD frequency: 0.00001  dbSNP: rs759729258
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000633716 SCV000754989 uncertain significance Gastrointestinal stromal tumor 2024-01-31 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 92 of the PDGFRA protein (p.Ala92Val). This variant is present in population databases (rs759729258, gnomAD 0.01%). 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: 528495). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PDGFRA protein function with a negative predictive value of 80%. 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.
GeneDx RCV001766349 SCV001989852 uncertain significance not provided 2019-05-23 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV003471979 SCV004200899 uncertain significance Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 2023-10-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004745515 SCV005366234 uncertain significance PDGFRA-related disorder 2024-06-30 no assertion criteria provided clinical testing The PDGFRA c.275C>T variant is predicted to result in the amino acid substitution p.Ala92Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0098% of alleles in individuals of South Asian descent in gnomAD. This variant is interpreted as a variant of uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/528495/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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