ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5422C>A (p.Pro1808Thr)

dbSNP: rs727505235
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156742 SCV000206463 uncertain significance not specified 2014-08-07 criteria provided, single submitter clinical testing The Pro1808Thr variant in PCDH15 has not been previously reported in individuals with hearing loss or in large population studies. Computational prediction too ls and conservation analyses suggest that the Pro1808Thr variant may not impact the protein, though this information is not predictive enough to rule out pathog enicity. In summary, the clinical significance of the Pro1808Thr variant is unce rtain.
Natera, Inc. RCV001831979 SCV002078551 uncertain significance Usher syndrome type 1F 2019-11-11 no assertion criteria provided clinical testing

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