ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.1517C>T (p.Thr506Met)

gnomAD frequency: 0.00007  dbSNP: rs367937228
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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 RCV001239321 SCV001412190 likely benign not provided 2025-01-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002484306 SCV002784924 uncertain significance Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F 2022-04-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003263878 SCV003944892 uncertain significance Inborn genetic diseases 2023-04-25 criteria provided, single submitter clinical testing The c.1517C>T (p.T506M) alteration is located in exon 13 (coding exon 12) of the PCDH15 gene. This alteration results from a C to T substitution at nucleotide position 1517, causing the threonine (T) at amino acid position 506 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001828916 SCV002088700 uncertain significance Usher syndrome type 1F 2020-01-29 no assertion criteria provided clinical testing

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