ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.863C>A (p.Pro288His)

gnomAD frequency: 0.00012  dbSNP: rs367574371
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000688674 SCV000816296 uncertain significance Bardet-Biedl syndrome 2022-04-07 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 288 of the TRIM32 protein (p.Pro288His). This variant is present in population databases (rs367574371, gnomAD 0.04%). 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: 568344). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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 RCV001662754 SCV001880384 uncertain significance not provided 2020-11-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485622 SCV002787050 uncertain significance Sarcotubular myopathy; Bardet-Biedl syndrome 11 2024-03-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001662754 SCV003823516 uncertain significance not provided 2022-03-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004965669 SCV005522557 uncertain significance Inborn genetic diseases 2024-11-12 criteria provided, single submitter clinical testing The c.863C>A (p.P288H) alteration is located in exon 2 (coding exon 1) of the TRIM32 gene. This alteration results from a C to A substitution at nucleotide position 863, causing the proline (P) at amino acid position 288 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003938039 SCV004750706 uncertain significance TRIM32-related disorder 2024-02-13 no assertion criteria provided clinical testing The TRIM32 c.863C>A variant is predicted to result in the amino acid substitution p.Pro288His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.036% of alleles in individuals of African 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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