ClinVar Miner

Submissions for variant NM_006283.3(TACC1):c.2186G>A (p.Arg729Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Duke University Health System Sequencing Clinic, Duke University Health System RCV003223545 SCV003919085 uncertain significance Seizure 2023-04-20 criteria provided, single submitter research
Ambry Genetics RCV004285599 SCV004962699 uncertain significance not specified 2023-09-26 criteria provided, single submitter clinical testing The c.2186G>A (p.R729Q) alteration is located in exon 11 (coding exon 11) of the TACC1 gene. This alteration results from a G to A substitution at nucleotide position 2186, causing the arginine (R) at amino acid position 729 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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