ClinVar Miner

Submissions for variant NM_015294.6(TRIM37):c.2240A>G (p.Asn747Ser)

gnomAD frequency: 0.00053  dbSNP: rs143613788
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000262301 SCV000338965 uncertain significance not provided 2016-02-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000262301 SCV002141095 uncertain significance not provided 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 747 of the TRIM37 protein (p.Asn747Ser). This variant is present in population databases (rs143613788, gnomAD 0.09%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with TRIM37-related conditions. ClinVar contains an entry for this variant (Variation ID: 285792). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mayo Clinic Laboratories, Mayo Clinic RCV000262301 SCV004224414 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing BP4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000262301 SCV001797457 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000262301 SCV001966223 likely benign not provided no assertion criteria provided clinical testing

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