ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.196_205del (p.Lys66fs)

dbSNP: rs1554732623
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500015 SCV000597584 pathogenic not provided 2016-12-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003392335 SCV004110235 likely pathogenic TRIM32-related disorder 2023-03-27 criteria provided, single submitter clinical testing The TRIM32 c.196_205del10 variant is predicted to result in a frameshift and premature protein termination (p.Lys66Alafs*2). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in TRIM32 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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