ClinVar Miner

Submissions for variant NM_001430.5(EPAS1):c.1648C>T (p.Arg550Trp)

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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 RCV002395011 SCV002703804 uncertain significance Inborn genetic diseases 2023-10-15 criteria provided, single submitter clinical testing The p.R550W variant (also known as c.1648C>T), located in coding exon 12 of the EPAS1 gene, results from a C to T substitution at nucleotide position 1648. The arginine at codon 550 is replaced by tryptophan, an amino acid with 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002465944 SCV002760620 uncertain significance not specified 2025-03-04 criteria provided, single submitter clinical testing

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