Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003415819 | SCV004108169 | uncertain significance | TRIM37-related condition | 2023-06-13 | criteria provided, single submitter | clinical testing | The TRIM37 c.227T>C variant is predicted to result in the amino acid substitution p.Leu76Pro. This variant has been reported along with a second TRIM37 variant in an individual with mulibrey nanism (Kallijärvi et al. 2005. PubMed ID: 15885686). Experimental studies suggest this variant impacts protein function (Kallijärvi et al. 2005. PubMed ID: 15885686). This variant is reported in 2 of ~251,000 alleles in gnomAD (http://gnomad.broadinstitute.org/variant/17-57165706-A-G). It is interpreted as likely pathogenic in ClinVar (https://preview.ncbi.nlm.nih.gov/clinvar/variation/56569/). Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Baylor Genetics | RCV000049982 | SCV004204318 | likely pathogenic | Mulibrey nanism syndrome | 2023-05-10 | criteria provided, single submitter | clinical testing | |
Juha Muilu Group; Institute for Molecular Medicine Finland |
RCV000049982 | SCV000082391 | probable-pathogenic | Mulibrey nanism syndrome | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |