ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.4387C>T (p.Arg1463Ter)

dbSNP: rs748670822
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn RCV001260912 SCV001437680 likely pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome criteria provided, single submitter clinical testing PVS1, PM2
3billion RCV001775162 SCV002012248 pathogenic Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 2021-10-02 criteria provided, single submitter clinical testing Stop-gained (nonsense): 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 (PVS1_VS). It is not observed in the gnomAD v2.1.1 dataset (PM2). The variant has been reported as pathogenic (ClinVar ID: VCV000981478.1). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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