ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.979A>G (p.Met327Val)

gnomAD frequency: 0.00009  dbSNP: rs373287765
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523459 SCV000618832 uncertain significance not provided 2021-08-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 19349376)
Labcorp Genetics (formerly Invitae), Labcorp RCV001038805 SCV001202301 uncertain significance Bardet-Biedl syndrome 2022-09-26 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 327 of the TRIM32 protein (p.Met327Val). This variant is present in population databases (rs373287765, 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: 450274). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Athena Diagnostics RCV000523459 SCV001475699 uncertain significance not provided 2019-11-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481706 SCV002781670 uncertain significance Sarcotubular myopathy; Bardet-Biedl syndrome 11 2021-11-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000523459 SCV003823511 uncertain significance not provided 2021-08-09 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV002481706 SCV006053119 uncertain significance Sarcotubular myopathy; Bardet-Biedl syndrome 11 2021-07-30 criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV003935385 SCV004748314 uncertain significance TRIM32-related disorder 2024-09-11 no assertion criteria provided clinical testing The TRIM32 c.979A>G variant is predicted to result in the amino acid substitution p.Met327Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.026% of alleles in individuals of European (non-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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