ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.1631T>G (p.Val544Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002401304 SCV002708814 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-11 criteria provided, single submitter clinical testing The p.V544G variant (also known as c.1631T>G), located in coding exon 10 of the PDGFRA gene, results from a T to G substitution at nucleotide position 1631. The valine at codon 544 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003475370 SCV004200980 uncertain significance Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 2023-05-05 criteria provided, single submitter clinical testing

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