Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000668602 | SCV000793231 | likely pathogenic | Usher syndrome, type 1F | 2017-08-07 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000826014 | SCV000967502 | uncertain significance | not specified | 2019-01-04 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Pathogenic. The c.2751+2T>C variant in PCDH15 has not been previously reported in individuals with hearing loss or Usher syndrome, but has been identified in 0.009% (3/34484) of Latino ch romosomes by gnomAD (http://gnomad.broadinstitute.org). This variant occurs with in the canonical splice site (+/- 1,2). Although additional studies would be nee ded to determine its impact, this variant is predicted to cause altered splicing of exon 20. However, because a loss of exon 20 would preserve the protein readi ng frame, the biological impact of this variant is uncertain. In summary, while there is some suspicion for a pathogenic role, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied: PM2_Supporting, PM4. |