ClinVar Miner

Submissions for variant NM_015294.6(TRIM37):c.227T>C (p.Leu76Pro)

gnomAD frequency: 0.00001  dbSNP: rs386834004
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences 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 (FIMM) RCV000049982 SCV000082391 probable-pathogenic Mulibrey nanism syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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