ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.1289C>T (p.Thr430Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005051474 SCV005682502 uncertain significance Sarcotubular myopathy; Bardet-Biedl syndrome 11 2024-04-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004731939 SCV005340023 uncertain significance TRIM32-related disorder 2024-06-28 no assertion criteria provided clinical testing The TRIM32 c.1289C>T variant is predicted to result in the amino acid substitution p.Thr430Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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