ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.986C>T (p.Pro329Leu)

gnomAD frequency: 0.00004  dbSNP: rs377510422
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000369921 SCV000336525 uncertain significance not provided 2017-12-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000460669 SCV000552163 uncertain significance Bardet-Biedl syndrome 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 329 of the TRIM32 protein (p.Pro329Leu). This variant is present in population databases (rs377510422, gnomAD 0.01%). 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: 284059). 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: "Benign"; 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.
Fulgent Genetics, Fulgent Genetics RCV002480017 SCV002788002 uncertain significance Sarcotubular myopathy; Bardet-Biedl syndrome 11 2024-03-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000369921 SCV003823469 uncertain significance not provided 2023-06-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004748690 SCV005348182 uncertain significance TRIM32-related disorder 2024-09-24 no assertion criteria provided clinical testing The TRIM32 c.986C>T variant is predicted to result in the amino acid substitution p.Pro329Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.014% of alleles in individuals of Latino 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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