ClinVar Miner

Submissions for variant NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter) (rs746068882)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rare Disease Group, Clinical Genetics,Karolinska Institutet RCV000984622 SCV000924632 pathogenic Jeune thoracic dystrophy 2019-06-08 criteria provided, single submitter clinical testing The p.Arg324* variant in KIAA0753 has been reported in homozygous state in two other families with autosomal recessive inheritance (Hammarsjö 2017) with SRTD and Joubert features. Disease-causing variants in the gene has been reported to cause SRTD/OFD/JBTS (Firat-Karalar 2014, Chevrier 2016, Hammarsjo 2017) and loss of cilia function. In summary, the p.Arg324* variant meets our criteria to be classified as pathogenic.
Rare Disease Group, Clinical Genetics,Karolinska Institutet RCV000590973 SCV000579488 pathogenic Jeune thoracic dystrophy; Joubert syndrome 2017-06-21 no assertion criteria provided research Three patients from two families homozygous for this nonsense variant.

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