ClinVar Miner

Submissions for variant NM_002906.4(RDX):c.1076_1079del (p.Ile359fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003337721 SCV004047937 likely pathogenic Autosomal recessive nonsyndromic hearing loss 24 criteria provided, single submitter clinical testing The c.1076_1079del (p.Ile359LysfsTer6) frameshift variant in RDX gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency (0.0004%) in the gnomAD and novel in 1000 genome database. This variant causes a frameshift starting with codon Isoleucine 359, changes this amino acid to Lysine residue, and creates a premature Stop codon at position 6 of the new reading frame, denoted p.Ile359LysfsTer6. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.
Dr.Nikuei Genetic Center RCV003337721 SCV005061403 pathogenic Autosomal recessive nonsyndromic hearing loss 24 no assertion criteria provided clinical testing

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