Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV002308554 | SCV002600423 | likely pathogenic | Acrocallosal syndrome | 2022-10-10 | criteria provided, single submitter | clinical testing | Variant summary: The variant identified by MLPA or other technology involves the deletion of the non-coding exon 1 and exon 2 that contains the canonical translation initiation codon of the KIF7 gene. The exact breakpoint at the 5' end of this variant is unknown and therefore this deletion might extend upstream of the assayed region of the gene. A presumed nomenclature of c.(?_-78)_(328+1_329-1)del has been designated for the purposes of this classification. Although exact breakpoints of this deletion are not known, it is expected to result in it is expected to result in an absent or shortened protein product, a known mechanism of disease. The variant was absent in 21694 control chromosomes (gnomAD structural variants dataset). To our knowledge, no occurrence of c.(?_-78)_(328+1_329-1)del in individuals affected with Acrocallosal Syndrome/Joubert Syndrome 12 and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic. |