ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.274C>T (p.Gln92Ter)

dbSNP: rs143842048
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670777 SCV000795673 likely pathogenic Usher syndrome type 1F 2017-11-12 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073252 SCV001238788 pathogenic Retinal dystrophy 2018-08-31 criteria provided, single submitter clinical testing
3billion, Medical Genetics RCV001809740 SCV002058460 pathogenic Autosomal recessive nonsyndromic hearing loss 23 2022-01-03 criteria provided, single submitter clinical testing Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS).The variant has been reported at least twice as pathogenic/likely pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000555038, PMID:26791358). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Labcorp Genetics (formerly Invitae), Labcorp RCV003558511 SCV004294377 pathogenic not provided 2023-04-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln92*) 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 childhood-onset deafness (PMID: 26791358). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as c.289C>T (p.Q97X). ClinVar contains an entry for this variant (Variation ID: 555038). For these reasons, this variant has been classified as Pathogenic.

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