ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.662A>G (p.Asn221Ser)

gnomAD frequency: 0.00034  dbSNP: rs139547641
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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 RCV001247068 SCV001420466 likely benign not provided 2024-12-15 criteria provided, single submitter clinical testing
GeneDx RCV001247068 SCV001795432 uncertain significance not provided 2025-01-06 criteria provided, single submitter clinical testing Observed with the PCDH15 R1405H variant in a patient with hearing loss in published literature; it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes; described as N226S using alternate nomenclature (PMID: 26969326); 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: 26969326)
Natera, Inc. RCV001830002 SCV002094294 uncertain significance Usher syndrome type 1F 2020-02-28 no assertion criteria provided clinical testing

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