ClinVar Miner

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

dbSNP: rs1601639680
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Total submissions: 1
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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).

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