ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.133C>T (p.Arg45Cys)

gnomAD frequency: 0.00003  dbSNP: rs753738560
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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 RCV001369584 SCV001566026 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 cysteine, which is neutral and slightly polar, at codon 45 of the TRIM32 protein (p.Arg45Cys). This variant is present in population databases (rs753738560, gnomAD 0.008%). 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: 1060191). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002476684 SCV002791700 uncertain significance Sarcotubular myopathy; Bardet-Biedl syndrome 11 2022-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004037082 SCV004972044 uncertain significance Inborn genetic diseases 2023-09-29 criteria provided, single submitter clinical testing The c.133C>T (p.R45C) alteration is located in exon 2 (coding exon 1) of the TRIM32 gene. This alteration results from a C to T substitution at nucleotide position 133, causing the arginine (R) at amino acid position 45 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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