ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4772G>A (p.Arg1591Lys)

gnomAD frequency: 0.00018  dbSNP: rs149384350
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000967758 SCV001115176 likely benign not provided 2024-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002548323 SCV003722890 uncertain significance Inborn genetic diseases 2021-08-23 criteria provided, single submitter clinical testing The c.4772G>A (p.R1591K) alteration is located in exon 33 (coding exon 32) of the PCDH15 gene. This alteration results from a G to A substitution at nucleotide position 4772, causing the arginine (R) at amino acid position 1591 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000967758 SCV005220760 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001277671 SCV001464635 likely benign Usher syndrome type 1F 2020-09-23 no assertion criteria provided clinical testing

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