ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5839C>T (p.Gln1947Ter)

gnomAD frequency: 0.00001  dbSNP: rs1457208099
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002367 SCV001160274 uncertain significance not specified 2019-02-20 criteria provided, single submitter clinical testing The PCDH15 c.5839C>T; p.Gln1947Ter variant (rs1457208099), to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant results in a premature termination codon in the last exon of the PCDH15 gene, which may not lead to nonsense-mediated decay. Additionally, this variant is only expected to truncate nine amino acids, leaving the remainder of the protein intact. Due to limited information, the clinical significance of the p.Gln1947Ter variant is uncertain at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV002068791 SCV002327822 likely benign not provided 2023-07-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827158 SCV002076775 uncertain significance Usher syndrome type 1F 2020-11-19 no assertion criteria provided clinical testing

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