ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.2060A>G (p.His687Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003073207 SCV003477600 uncertain significance Gastrointestinal stromal tumor 2024-01-11 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 687 of the PDGFRA protein (p.His687Arg). This variant is not present in population databases (gnomAD no frequency). 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: 2163275). 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 RCV004942976 SCV005471155 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-25 criteria provided, single submitter clinical testing The c.2060A>G (p.H687R) alteration is located in exon 15 (coding exon 14) of the PDGFRA gene. This alteration results from a A to G substitution at nucleotide position 2060, causing the histidine (H) at amino acid position 687 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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