ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.889A>G (p.Lys297Glu)

gnomAD frequency: 0.00001  dbSNP: rs759742371
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000684920 SCV000812381 uncertain significance Bardet-Biedl syndrome 2024-01-18 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 297 of the TRIM32 protein (p.Lys297Glu). This variant is present in population databases (rs759742371, gnomAD 0.1%). 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: 565373). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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 RCV002477520 SCV002776026 uncertain significance Sarcotubular myopathy; Bardet-Biedl syndrome 11 2024-05-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003140076 SCV003823510 uncertain significance not provided 2021-06-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003420210 SCV004118235 uncertain significance TRIM32-related disorder 2024-08-19 no assertion criteria provided clinical testing The TRIM32 c.889A>G variant is predicted to result in the amino acid substitution p.Lys297Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.14% of alleles in individuals of Latino descent in gnomAD, which is more common than expected for an undocumented cause of disease. Although we suspect this variant may be benign, at this time, the clinical significance is uncertain due to the absence of conclusive functional and genetic evidence.

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