ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.517G>A (p.Asp173Asn)

gnomAD frequency: 0.00002  dbSNP: rs763718380
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230573 SCV000289213 uncertain significance Gastrointestinal stromal tumor 2024-01-10 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 173 of the PDGFRA protein (p.Asp173Asn). This variant is present in population databases (rs763718380, 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: 240352). 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.
Ambry Genetics RCV001023673 SCV001185585 likely benign Hereditary cancer-predisposing syndrome 2019-01-10 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.
Baylor Genetics RCV003475831 SCV004200917 uncertain significance Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 2023-09-05 criteria provided, single submitter clinical testing

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