ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.434G>A (p.Arg145Gln)

gnomAD frequency: 0.00003  dbSNP: rs753519978
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001037590 SCV001201013 uncertain significance Bardet-Biedl syndrome 2022-08-15 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 145 of the TRIM32 protein (p.Arg145Gln). This variant is present in population databases (rs753519978, gnomAD 0.006%). 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: 836456). 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 RCV002497362 SCV002806968 uncertain significance Sarcotubular myopathy; Bardet-Biedl syndrome 11 2022-03-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003396632 SCV004105628 uncertain significance TRIM32-related condition 2024-02-02 criteria provided, single submitter clinical testing The TRIM32 c.434G>A variant is predicted to result in the amino acid substitution p.Arg145Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of South Asian 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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