ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.1641C>A (p.Ala547=) (rs553215090)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422199 SCV000516598 likely benign not specified 2017-10-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000541384 SCV000654201 uncertain significance Epileptic encephalopathy, early infantile, 1; Deafness, autosomal dominant 65; Caused by mutation in the TBC1 domain family, member 24 2019-10-08 criteria provided, single submitter clinical testing This sequence change affects codon 547 of the TBC1D24 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TBC1D24 protein. This variant is present in population databases (rs553215090, ExAC 0.04%). This variant has not been reported in the literature in individuals with TBC1D24-related disease. ClinVar contains an entry for this variant (Variation ID: 379484). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Ambry Genetics RCV000720074 SCV000850950 likely benign Seizures 2016-02-25 criteria provided, single submitter clinical testing Rare (0.1%) in general population databases (dbsnp, esp, 1000 genomes) ;In silico models in agreement (benign) ;Synonymous alterations with insufficient evidence to classify as benign

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