ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.1998C>T (p.Thr666=)

gnomAD frequency: 0.00002  dbSNP: rs754253198
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000272286 SCV000340571 uncertain significance not provided 2016-04-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000272286 SCV001207115 uncertain significance not provided 2024-12-02 criteria provided, single submitter clinical testing This sequence change affects codon 666 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 present in population databases (rs754253198, gnomAD 0.03%). 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: 286959). 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. RCV001828238 SCV002088533 uncertain significance Usher syndrome type 1F 2019-11-11 no assertion criteria provided clinical testing

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