ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.322G>A (p.Glu108Lys)

gnomAD frequency: 0.00005  dbSNP: rs878854829
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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 RCV000232670 SCV000289208 uncertain significance Gastrointestinal stromal tumor 2023-05-25 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.02%). 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. 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. ClinVar contains an entry for this variant (Variation ID: 240348). This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 108 of the PDGFRA protein (p.Glu108Lys).
Ambry Genetics RCV004020822 SCV003741990 benign Hereditary cancer-predisposing syndrome 2024-10-28 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV004567752 SCV005055131 uncertain significance Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 2024-03-28 criteria provided, single submitter clinical testing

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