ClinVar Miner

Submissions for variant NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=) (rs752659088)

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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 RCV000754953 SCV000788379 likely pathogenic Jeune thoracic dystrophy 2018-05-01 criteria provided, single submitter research
Rare Disease Group, Clinical Genetics,Karolinska Institutet RCV000984620 SCV000924633 likely pathogenic Jeune thoracic dystrophy; Joubert syndrome 2019-06-11 criteria provided, single submitter clinical testing This synonymous variant has been shown to affect splicing, leading to skipping of exon 4 in the KIAA0753 protein (shown by sequencing cDNA from homozygous individual). Four deceased patients (from two families) with SRTD and JBTS phenotype are homozygous for this variant. In summary, this seemingly synonymous variant affect splicing and should be considered as likely pathogenic.

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