ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.1703TCT[1] (p.Phe569del)

dbSNP: rs1190512893
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001929539 SCV002198614 uncertain significance Bardet-Biedl syndrome 2023-08-30 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with TRIM32-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant, c.1706_1708del, results in the deletion of 1 amino acid(s) of the TRIM32 protein (p.Phe569del), but otherwise preserves the integrity of the reading frame.
Fulgent Genetics, Fulgent Genetics RCV005042539 SCV005682518 uncertain significance Sarcotubular myopathy; Bardet-Biedl syndrome 11 2024-02-16 criteria provided, single submitter clinical testing

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