ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.1195A>C (p.Ser399Arg)

dbSNP: rs199786639
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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 RCV000937218 SCV001082994 likely benign not provided 2024-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000937218 SCV001983062 uncertain significance not provided 2025-01-13 criteria provided, single submitter clinical testing Identified in published literature with a second PCDH15 variant in a patient with hearing loss who had additional neurodevelopmental features proposed to be due to co-occuring variants in a different gene (PMID: 24965255); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27058588, 34426522, 35114279, 24965255)
Natera, Inc. RCV001832137 SCV002091780 benign Usher syndrome type 1F 2020-01-15 no assertion criteria provided clinical testing

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