ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.3460_3461del (p.Leu1154fs)

dbSNP: rs771696726
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002480941 SCV002790889 pathogenic Autosomal recessive nonsyndromic hearing loss 28 2022-03-16 criteria provided, single submitter clinical testing
GeneDx RCV003151847 SCV003840753 pathogenic not provided 2022-09-16 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28000701, 34416374, 28089734)
Labcorp Genetics (formerly Invitae), Labcorp RCV003151847 SCV004300010 pathogenic not provided 2023-11-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1154Alafs*29) 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 (rs771696726, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with nonsyndromic deafness (PMID: 28000701, 28089734, 34416374). This variant is also known as c.3456_3457delCT (p.Asp1152AspfsTer31). ClinVar contains an entry for this variant (Variation ID: 996725). For these reasons, this variant has been classified as Pathogenic.
University of Washington Center for Mendelian Genomics, University of Washington RCV001291491 SCV001479995 likely pathogenic Hearing loss, autosomal recessive no assertion criteria provided research

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