ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.873T>G (p.Ile291Met)

dbSNP: rs766687896
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000355538 SCV000345041 uncertain significance not provided 2016-09-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000793836 SCV000933212 uncertain significance Bardet-Biedl syndrome 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 291 of the TRIM32 protein (p.Ile291Met). This variant is present in population databases (rs766687896, gnomAD 0.003%). 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: 290478). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Baylor Genetics RCV001334687 SCV001527600 uncertain significance Bardet-Biedl syndrome 11 2018-03-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV002487282 SCV002793333 uncertain significance Sarcotubular myopathy; Bardet-Biedl syndrome 11 2021-12-01 criteria provided, single submitter clinical testing

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