Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004689410 | SCV005184961 | uncertain significance | not specified | 2024-05-24 | criteria provided, single submitter | clinical testing | Variant summary: TRIM37 c.326G>C (p.Cys109Ser) results in a non-conservative amino acid change located in the B-box-type zinc finger domain (IPR000315) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251212 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.326G>C has been reported in the literature in at least one compound heterozygous individual affected with Mulibrey nanism syndrome with Wilms tumor (e.g. Hamalainen_2006). These data do not provide sufficient evidence to allow any conclusion about variant significance. One publication reports experimental evidence evaluating an impact on protein function showing the variant results in altered subcellular localization in vitro, however, does not allow convincing conclusions about the variant effect (e.g. Hamalainen_2006). The following publications have been ascertained in the context of this evaluation (PMID: 17100991, 34687117). ClinVar contains an entry for this variant (Variation ID: 5245). Based on the evidence outlined above, the variant was classified as uncertain significance. |
| Fulgent Genetics, |
RCV000005557 | SCV005649761 | likely pathogenic | Mulibrey nanism syndrome | 2024-05-26 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000005557 | SCV000025739 | pathogenic | Mulibrey nanism syndrome | 2006-12-01 | no assertion criteria provided | literature only |