ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.1061A>G (p.Gln354Arg)

gnomAD frequency: 0.00001  dbSNP: rs1266244841
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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 RCV001304394 SCV001493672 uncertain significance Bardet-Biedl syndrome 2022-05-25 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 354 of the TRIM32 protein (p.Gln354Arg). This variant has not been reported in the literature in individuals affected with TRIM32-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1007246).
Fulgent Genetics, Fulgent Genetics RCV002493596 SCV002785798 uncertain significance Sarcotubular myopathy; Bardet-Biedl syndrome 11 2021-09-20 criteria provided, single submitter clinical testing

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