ClinVar Miner

Submissions for variant NM_024809.5(TCTN2):c.668C>T (p.Thr223Met) (rs145374149)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193818 SCV000249141 uncertain significance not specified 2015-03-10 criteria provided, single submitter clinical testing
Invitae RCV000195934 SCV000255127 uncertain significance Joubert syndrome; Meckel-Gruber syndrome 2016-09-29 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 223 of the TCTN2 protein (p.Thr223Met). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs145374149, ExAC 0.2%) but has not been reported in the literature in individuals with a TCTN2-related disease. ClinVar contains an entry for this variant (Variation ID: 212388). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this sequence change is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function, and is found in the population at an appreciable frequency. This variant is not anticipated to cause disease; however, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Illumina Clinical Services Laboratory,Illumina RCV000282935 SCV000376851 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337933 SCV000376852 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763800 SCV000894714 uncertain significance Meckel syndrome type 8; Joubert syndrome 24 2018-10-31 criteria provided, single submitter clinical testing

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