ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.3122+2T>A

dbSNP: rs1554882546
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668350 SCV000792932 likely pathogenic Usher syndrome type 1F 2017-07-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001378360 SCV001575912 likely pathogenic not provided 2018-05-06 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PCDH15 are known to be pathogenic (PMID: 11398101, 11487575, 14570705). This variant has been observed in an individual affected with Usher syndrome (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 23 of the PCDH15 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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