ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.705T>C (p.Asn235=)

dbSNP: rs112059717
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001871551 SCV002285680 uncertain significance not provided 2022-07-14 criteria provided, single submitter clinical testing This sequence change affects codon 235 of the PCDH15 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PCDH15 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PCDH15-related conditions. ClinVar contains an entry for this variant (Variation ID: 990896). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Natera, Inc. RCV001279010 SCV001466065 uncertain significance Usher syndrome type 1F 2020-04-10 no assertion criteria provided clinical testing

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