ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.4526_4527del (p.Arg1509fs)

dbSNP: rs1601639680
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001009068 SCV001168878 likely pathogenic not provided 2018-10-23 criteria provided, single submitter clinical testing The c.4526_4527delGA likely pathogenic variant in the TRIOBP gene causes a frameshift starting with codon Arginine 1509, changes this amino acid to a Lysine residue and creates a premature Stop codon at position 8 of the new reading frame, denoted p.Arg1509LysfsX8. This likely pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.4526_4527delGA variant is not observed in large population cohorts (Lek et al., 2016).
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796348 SCV005418386 likely pathogenic Autosomal recessive nonsyndromic hearing loss 28 criteria provided, single submitter clinical testing PVS1+PM2_Supporting

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