ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.896G>A (p.Arg299Gln)

gnomAD frequency: 0.00002  dbSNP: rs766439806
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334688 SCV001527601 uncertain significance Sarcotubular myopathy 2018-09-25 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001865816 SCV002285100 uncertain significance Bardet-Biedl syndrome 2022-03-06 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 299 of the TRIM32 protein (p.Arg299Gln). This variant is present in population databases (rs766439806, gnomAD 0.03%). 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: 1032554). 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 RCV002504521 SCV002816200 uncertain significance Sarcotubular myopathy; Bardet-Biedl syndrome 11 2021-09-17 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003481076 SCV004225085 uncertain significance not provided 2022-01-10 criteria provided, single submitter clinical testing BP4

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