ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.790C>T (p.Gln264Ter) (rs1057516038)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute RCV000408631 SCV000484433 pathogenic Joubert syndrome 23 2015-08-28 criteria provided, single submitter clinical testing This heterozygous variant results in the insertion of a premature stop codon, NP_001231118.1(KIAA0586): p.(Gln317*). This is a novel variant and was identified in trans with the common KIAA0586 mutation, p.(Arg143Lysfs*4), in a patient with clinical and MRI features of Joubert syndrome.

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