ClinVar Miner

Submissions for variant NM_002906.4(RDX):c.1308del (p.Lys438fs)

dbSNP: rs727504709
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155993 SCV000205705 pathogenic Rare genetic deafness 2013-09-07 criteria provided, single submitter clinical testing The Lys438fs variant in RDX has not been reported in individuals with hearing lo ss or in large population studies. This frameshift variant is predicted to alter the protein?s amino acid sequence beginning at position 438 and lead to a prema ture termination codon 26 amino acids downstream. This alteration is then predic ted to lead to a truncated or absent protein. Loss of function variants in the RDX gene have been reported in other individuals with hearing loss, suggesting t hat the pathogenic mechanism is due to loss of the RDX gene product (Khan 2007). In summary, this variant meets our criteria to be classified as pathogenic (htt p://pcpgm.partners.org/LMM).
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004760401 SCV005374144 pathogenic Autosomal recessive nonsyndromic hearing loss 24 2024-09-22 criteria provided, single submitter clinical testing

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