ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.139del (p.Asp47fs)

dbSNP: rs1555032952
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669464 SCV000794220 likely pathogenic Usher syndrome type 1F 2017-09-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868231 SCV002148283 pathogenic not provided 2021-11-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PCDH15-related conditions. This sequence change creates a premature translational stop signal (p.Asp47Metfs*15) 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). ClinVar contains an entry for this variant (Variation ID: 553924). For these reasons, this variant has been classified as Pathogenic.

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