ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.986C>G (p.Pro329Arg)

dbSNP: rs377510422
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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 RCV001941284 SCV002216601 uncertain significance Bardet-Biedl syndrome 2021-04-14 criteria provided, single submitter clinical testing 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. 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"). This variant has not been reported in the literature in individuals with TRIM32-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with arginine at codon 329 of the TRIM32 protein (p.Pro329Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine.
Fulgent Genetics, Fulgent Genetics RCV002507621 SCV002815067 uncertain significance Sarcotubular myopathy; Bardet-Biedl syndrome 11 2022-05-17 criteria provided, single submitter clinical testing

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