ClinVar Miner

Submissions for variant NM_002906.4(RDX):c.1176G>T (p.Glu392Asp)

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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 RCV004671766 SCV005161885 uncertain significance Inborn genetic diseases 2024-05-10 criteria provided, single submitter clinical testing The c.1176G>T (p.E392D) alteration is located in exon 11 (coding exon 10) of the RDX gene. This alteration results from a G to T substitution at nucleotide position 1176, causing the glutamic acid (E) at amino acid position 392 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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