ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.973A>G (p.Met325Val)

gnomAD frequency: 0.00006  dbSNP: rs148027625
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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 RCV001295095 SCV001484006 uncertain significance Bardet-Biedl syndrome 2024-01-17 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 325 of the TRIM32 protein (p.Met325Val). This variant is present in population databases (rs148027625, 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: 999138). 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 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 RCV002504430 SCV002812851 uncertain significance Sarcotubular myopathy; Bardet-Biedl syndrome 11 2021-09-06 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003135919 SCV003823486 uncertain significance not provided 2019-03-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004749644 SCV005352251 uncertain significance TRIM32-related disorder 2023-12-27 no assertion criteria provided clinical testing The TRIM32 c.973A>G variant is predicted to result in the amino acid substitution p.Met325Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.028% of alleles in individuals of European (Finnish) 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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