ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.2751+2T>C (rs754543131)

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Total submissions: 2
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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, Partners HealthCare Personalized 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.

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