ClinVar Miner

Submissions for variant NM_002906.4(RDX):c.1648C>T (p.Leu550Phe)

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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 RCV004957681 SCV005492289 uncertain significance Inborn genetic diseases 2024-09-08 criteria provided, single submitter clinical testing The c.1648C>T (p.L550F) alteration is located in exon 14 (coding exon 13) of the RDX gene. This alteration results from a C to T substitution at nucleotide position 1648, causing the leucine (L) at amino acid position 550 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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