ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.1951T>C (p.Ser651Pro)

dbSNP: rs1402865703
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001893649 SCV002175334 uncertain significance Bardet-Biedl syndrome 2022-06-20 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 651 of the TRIM32 protein (p.Ser651Pro). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with TRIM32-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV002503534 SCV002778830 uncertain significance Sarcotubular myopathy; Bardet-Biedl syndrome 11 2024-05-13 criteria provided, single submitter clinical testing

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