ClinVar Miner

Submissions for variant NM_181458.4(PAX3):c.667C>T (p.Arg223Ter)

dbSNP: rs772241382
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599259 SCV000709897 pathogenic not provided 2024-05-21 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 20478267, 9654197, 17254487, 25525159, 8019556, 20664692, 9541113, 26275939, 30978479, 34008892, 34142234, 34599368, 37211999, 35982127, 27759048, 8533800)
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000599259 SCV001467991 pathogenic not provided 2020-08-04 criteria provided, single submitter clinical testing
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital RCV001290145 SCV001478198 pathogenic Waardenburg syndrome type 1 2019-01-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001335583 SCV001528762 pathogenic Waardenburg syndrome type 3 2018-04-23 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as pathogenic [PMID 8019556, 26275939, 27759048, 25525159]
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital RCV001290145 SCV001792239 pathogenic Waardenburg syndrome type 1 criteria provided, single submitter research Familial case: proband with bilateral profound sensorineural hearing loss, Telecanthus, nasal wings hypoplasia and hyperplasia of nasal root, and synophris, Blue hypoplastic irides and white hair forelock. Paternal grandmother and paternal aunt are also carriers of this variant and affected by only facial dysmorphisms
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001290145 SCV001976945 pathogenic Waardenburg syndrome type 1 2021-10-01 criteria provided, single submitter clinical testing PVS1, PM1, PM2, PP3, PP4, PP5
Labcorp Genetics (formerly Invitae), Labcorp RCV000599259 SCV002240644 pathogenic not provided 2025-02-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg223*) in the PAX3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PAX3 are known to be pathogenic (PMID: 20127975, 23512835). This variant is present in population databases (rs772241382, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with Waardenburg syndrome (PMID: 8019556, 30978479). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 503680). For these reasons, this variant has been classified as Pathogenic.
Neuberg Centre For Genomic Medicine, NCGM RCV001290145 SCV004171872 pathogenic Waardenburg syndrome type 1 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000599259 SCV004811470 pathogenic not provided 2024-03-01 criteria provided, single submitter clinical testing PAX3: PVS1, PM2, PS4:Moderate

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