ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.206T>C (p.Val69Ala)

dbSNP: rs757101121
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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 RCV001045745 SCV001209616 uncertain significance Gastrointestinal stromal tumor 2024-01-27 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 69 of the PDGFRA protein (p.Val69Ala). This variant is present in population databases (rs757101121, 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: 843187). 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.
Baylor Genetics RCV003473631 SCV004200906 uncertain significance Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 2023-09-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004944795 SCV005471016 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.

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