ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.1954A>G (p.Thr652Ala)

gnomAD frequency: 0.00001  dbSNP: rs763172140
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175844 SCV000227411 uncertain significance not provided 2016-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000530785 SCV000636503 uncertain significance Bardet-Biedl syndrome 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 652 of the TRIM32 protein (p.Thr652Ala). This variant is present in population databases (rs763172140, gnomAD 0.003%). 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: 195282). 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. 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 RCV002485140 SCV002781283 uncertain significance Sarcotubular myopathy; Bardet-Biedl syndrome 11 2022-05-04 criteria provided, single submitter clinical testing

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