ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.1139C>G (p.Thr380Ser)

dbSNP: rs139277710
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001341684 SCV001535567 uncertain significance Bardet-Biedl syndrome 2020-10-08 criteria provided, single submitter clinical testing 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This sequence change replaces threonine with serine at codon 380 of the TRIM32 protein (p.Thr380Ser). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and serine. This variant is present in population databases (rs139277710, ExAC 0.01%). This variant has not been reported in the literature in individuals with TRIM32-related conditions. 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.

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