ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.325C>T (p.Arg109Trp)

gnomAD frequency: 0.00001  dbSNP: rs776796546
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001038551 SCV001202026 uncertain significance Bardet-Biedl syndrome 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 109 of the TRIM32 protein (p.Arg109Trp). This variant is present in population databases (rs776796546, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with TRIM32-related conditions. ClinVar contains an entry for this variant (Variation ID: 837259). 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 disruptive. 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.
Fulgent Genetics, Fulgent Genetics RCV002479247 SCV002799584 uncertain significance Sarcotubular myopathy; Bardet-Biedl syndrome 11 2024-04-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003141949 SCV003823498 uncertain significance not provided 2022-05-11 criteria provided, single submitter clinical testing

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