ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5818_5820dup (p.Ile1940dup) (rs750168790)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670274 SCV000795108 uncertain significance Usher syndrome type 1F 2017-10-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV001195251 SCV001365558 uncertain significance not specified 2019-07-30 criteria provided, single submitter clinical testing The p.Ile1940dup variant in PCDH15 has not been previously reported in individuals with hearing loss or Usher syndrome but has been identified in 0.006% (2/34500) of Latino chromosomes by gnomAD ( This variant has also been reported in ClinVar (Variation ID 545502). This variant is a duplication of the isoleucine (Ile) residue at position 1940 and is not predicted to alter the protein reading-frame. It is unclear if this duplication will impact the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, PM4_Supporting.
Invitae RCV001226372 SCV001398684 uncertain significance not provided 2019-09-06 criteria provided, single submitter clinical testing This variant, c.5818_5820dup, results in the insertion of 1 amino acid(s) to the PCDH15 protein (p.Ile1940dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs750168790, ExAC 0.02%). This variant has not been reported in the literature in individuals with PCDH15-related conditions. ClinVar contains an entry for this variant (Variation ID: 554605). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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