ClinVar Miner

Submissions for variant NM_001143992.2(WRAP53):c.854T>C (p.Phe285Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004524248 SCV005027697 uncertain significance Dyskeratosis congenita 2024-02-04 criteria provided, single submitter clinical testing The p.F285S variant (also known as c.854T>C), located in coding exon 6 of the WRAP53 gene, results from a T to C substitution at nucleotide position 854. The phenylalanine at codon 285 is replaced by serine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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