Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rare Disease Group, |
RCV000754953 | SCV000788379 | likely pathogenic | Jeune thoracic dystrophy | 2018-05-01 | criteria provided, single submitter | research | |
Rare Disease Group, |
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. |