ClinVar Miner

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

dbSNP: rs982893820
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001214300 SCV001385975 likely pathogenic not provided 2024-12-14 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 23 of the PCDH15 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site 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 is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with clinical features of Usher syndrome (internal data). ClinVar contains an entry for this variant (Variation ID: 943995). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Natera, Inc. RCV001836156 SCV002093012 likely pathogenic Usher syndrome type 1F 2021-05-18 no assertion criteria provided clinical testing
Baylor Genetics RCV003473762 SCV004200880 likely pathogenic Autosomal recessive nonsyndromic hearing loss 23 2022-01-27 flagged submission clinical testing

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