ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.3214dup (p.Arg1072fs)

dbSNP: rs1485334519
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV001799527 SCV001739309 pathogenic Autosomal recessive nonsyndromic hearing loss 28 2020-09-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003660893 SCV004382655 pathogenic not provided 2023-09-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1072Profs*12) in the TRIOBP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TRIOBP are known to be pathogenic (PMID: 16385457, 16385458, 20510926). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with deafness (PMID: 34440452). ClinVar contains an entry for this variant (Variation ID: 1174531). For these reasons, this variant has been classified as Pathogenic.

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