ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.1930A>G (p.Ser644Gly)

gnomAD frequency: 0.00003  dbSNP: rs1462453134
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000733059 SCV000618831 uncertain significance not provided 2017-07-18 criteria provided, single submitter clinical testing The S644G variant in the TRIM32 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S644G variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The S644G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where amino acids with similar properties to Serine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret S644G as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000638347 SCV000759843 uncertain significance Bardet-Biedl syndrome 2024-10-25 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 644 of the TRIM32 protein (p.Ser644Gly). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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: 450273). 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.
Eurofins Ntd Llc (ga) RCV000733059 SCV000861078 uncertain significance not provided 2018-05-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV003159673 SCV003903730 uncertain significance Inborn genetic diseases 2023-02-22 criteria provided, single submitter clinical testing The c.1930A>G (p.S644G) alteration is located in exon 2 (coding exon 1) of the TRIM32 gene. This alteration results from a A to G substitution at nucleotide position 1930, causing the serine (S) at amino acid position 644 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004748806 SCV005362211 uncertain significance TRIM32-related disorder 2024-07-08 no assertion criteria provided clinical testing The TRIM32 c.1930A>G variant is predicted to result in the amino acid substitution p.Ser644Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0023% 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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