ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.6092dup (p.Leu2031fs)

dbSNP: rs752676391
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Strasbourg University Hospital RCV001260798 SCV001437891 likely pathogenic Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing
3billion RCV001030438 SCV002521384 pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 2022-05-22 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.002%). Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been previously reported as de novo in a similarly affected individual (PMID: 32109419). The variant has been reported to be associated with TRIO related disorder (ClinVar ID: VCV000830230). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252297 SCV002523374 likely pathogenic See cases 2019-12-11 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PM2
GeneDx RCV002272390 SCV002558090 pathogenic not provided 2022-07-29 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 a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32109419)
OMIM RCV001030438 SCV001193446 pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 2020-03-31 no assertion criteria provided literature only

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