Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001266989 | SCV001445170 | pathogenic | Inborn genetic diseases | 2023-07-25 | criteria provided, single submitter | clinical testing | The c.3265dupA (p.I1089Nfs*2) alteration, located in coding exon 22 of the TRIP12 gene, consists of a duplication of A at position 3265, causing a translational frameshift with a predicted alternate stop codon after 2 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic. |
| Institute of Medical Genetics and Applied Genomics, |
RCV001268352 | SCV001447216 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
| Victorian Clinical Genetics Services, |
RCV002471071 | SCV002769522 | pathogenic | Clark-Baraitser syndrome | 2020-10-19 | criteria provided, single submitter | clinical testing | Based on the classification scheme VCGS_Germline_v1.3.2, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with Clark-Baraitser syndrome. (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0202 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (premature termination codon is located at least 54 nucleotides upstream of the final exon-exon junction), but is located in an exon that may undergo alternative splicing. (SP) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0701 - Other NMD-predicted variant(s) comparable to the one identified in this case have very strong previous evidence for pathogenicity. There are more than 10 likely pathogenic/pathogenic NMD-predicted variants in this gene. These comparable variants are also located in exons that may undergo alternative splicing but are present in NM_004238.2 (ClinVar, Deciphering Developmental Disorders (DDD) Study). (SP) 0807 - This variant has no previous evidence of pathogenicity. (I) 0905 - No published segregation evidence has been identified for this variant. (I) 1007 - No published functional evidence has been identified for this variant. (I) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign |
| Institute of Human Genetics, |
RCV003128566 | SCV003804865 | pathogenic | See cases | 2022-11-07 | criteria provided, single submitter | clinical testing | ACMG categories: PVS1,PM2,PP5 |