ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.493C>T (p.Arg165Trp)

gnomAD frequency: 0.00001  dbSNP: rs1378775801
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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 RCV001352032 SCV001546555 uncertain significance Bardet-Biedl syndrome 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 165 of the TRIM32 protein (p.Arg165Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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 RCV002493813 SCV002778389 uncertain significance Sarcotubular myopathy; Bardet-Biedl syndrome 11 2024-06-10 criteria provided, single submitter clinical testing

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