ClinVar Miner

Submissions for variant NM_012210.3(TRIM32):c.1222C>T (p.Arg408Cys) (rs3747835)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000244938 SCV000227409 likely benign not specified 2017-12-10 criteria provided, single submitter clinical testing
GeneDx RCV000244938 SCV000491228 uncertain significance not specified 2016-11-21 criteria provided, single submitter clinical testing The R408C variant in the TRIM32 gene has been previously reported in one individual with Usher syndrome; however, no second variant in the TRIM32 gene, as would be expected with autosomal recessive inheritance, was detected in this individual (Song et al., 2011). While not present in the homozygous state, the NHLBI ESP Exome Sequencing Project reports R408C was observed in 17/8600 (0.20%) alleles from individuals of European American background, indicating it may be a rare variant in this population. The R408C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R408C as a variant of uncertain significance.
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000626297 SCV000746958 likely pathogenic Bardet-Biedl syndrome 11 2017-12-18 criteria provided, single submitter clinical testing
Invitae RCV000458438 SCV000552160 likely benign Bardet-Biedl syndrome 2017-12-27 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory,National Institutes of Health RCV000086966 SCV000119219 not provided not provided no assertion provided not provided
PreventionGenetics RCV000244938 SCV000311880 likely benign not specified criteria provided, single submitter clinical testing

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