ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5565C>A (p.Ala1855=) (rs111033445)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665949 SCV000790164 uncertain significance Usher syndrome type 1F 2017-03-14 criteria provided, single submitter clinical testing
Invitae RCV001039646 SCV001203183 uncertain significance not provided 2019-12-11 criteria provided, single submitter clinical testing This sequence change affects codon 1855 of the PCDH15 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PCDH15 protein. This variant is present in population databases (rs111033445, ExAC 0.001%). This variant has been observed in individual(s) with inherited retinal disease (PMID: 27208204). ClinVar contains an entry for this variant (Variation ID: 236520). This variant has also been reported as c.5586C>A, p.Ala1862Ala. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV000225513 SCV000282630 uncertain significance Retinal dystrophy no assertion criteria provided clinical testing

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