ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.3295C>T (p.Gln1099Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003834916 SCV004638780 pathogenic not provided 2024-01-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1099*) 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 present in population databases (rs777561677, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with TRIOBP-related conditions. For these reasons, this variant has been classified as Pathogenic.
Laboratory of Human Genetics, Universidade de São Paulo RCV004719051 SCV005324782 pathogenic Hearing loss, autosomal recessive 2024-05-01 criteria provided, single submitter research The TRIOBP NM_001039141.3:c.3295C>T variant is a null variant in a gene where loss of function is a known mechanism of disease (PVS1), it is associated with a recessive disorder, detected in trans with a pathogenic variant, in homozygous state in affected cases (PM3), has Extremely low frequency in gnomAD population databases (PM2). Here it was found in homozygosis in affected individual born from consanguineous couple.

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