ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.11C>T (p.Ser4Phe)

dbSNP: rs138929755
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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 RCV000545506 SCV000630543 uncertain significance Gastrointestinal stromal tumor 2022-12-21 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 458990). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 4 of the PDGFRA protein (p.Ser4Phe).
Ambry Genetics RCV002350206 SCV002641636 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-19 criteria provided, single submitter clinical testing The p.S4F variant (also known as c.11C>T), located in coding exon 1 of the PDGFRA gene, results from a C to T substitution at nucleotide position 11. The serine at codon 4 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004568754 SCV005055171 uncertain significance Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 2024-01-04 criteria provided, single submitter clinical testing

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