ClinVar Miner

Submissions for variant NM_002585.4(PBX1):c.862C>T (p.Arg288Ter)

gnomAD frequency: 0.00001  dbSNP: rs1259895025
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003128941 SCV003805290 pathogenic not provided 2022-08-14 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; This variant is associated with the following publications: (PMID: 31625560, 29036646, 35451537)
PreventionGenetics, part of Exact Sciences RCV003410266 SCV004108154 pathogenic PBX1-related disorder 2023-05-26 criteria provided, single submitter clinical testing The PBX1 c.862C>T variant is predicted to result in premature protein termination (p.Arg288*). This variant was reported as a de novo finding in an individual with PBX1-related congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay (Slavotinek et al. 2017. PubMed ID: 29036646). This variant is reported in 0.0065% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-164781251-C-T). Nonsense variants in PBX1 are expected to be pathogenic. This variant is interpreted as pathogenic.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV004017970 SCV004847245 pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 2023-11-09 criteria provided, single submitter clinical testing

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