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: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000967758 SCV001115176 likely benign not provided 2024-01-25 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.
Natera, Inc. RCV001277671 SCV001464635 likely benign Usher syndrome type 1F 2020-09-23 no assertion criteria provided clinical testing

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