ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.1088del (p.Leu363fs)

dbSNP: rs199469706
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198734 SCV001369729 pathogenic Usher syndrome type 1D 2019-11-27 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV001381510 SCV001579942 pathogenic not provided 2024-11-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu363Trpfs*58) in the PCDH15 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PCDH15 are known to be pathogenic (PMID: 11398101, 11487575, 14570705). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 11487575). ClinVar contains an entry for this variant (Variation ID: 4932). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003472980 SCV004200797 pathogenic Autosomal recessive nonsyndromic hearing loss 23 2024-03-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005041989 SCV005677170 pathogenic Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F 2024-05-03 criteria provided, single submitter clinical testing
OMIM RCV000005217 SCV000025395 pathogenic Usher syndrome type 1F 2012-10-05 no assertion criteria provided literature only

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