ClinVar Miner

Submissions for variant NM_002585.4(PBX1):c.616del (p.Arg206fs)

dbSNP: rs2102319548
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005095294 SCV005753631 pathogenic not provided 2024-05-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg206Alafs*18) in the PBX1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PBX1 are known to be pathogenic (PMID: 28566479, 29036646, 29226118). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PBX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1339930). For these reasons, this variant has been classified as Pathogenic.
GenomeConnect, ClinGen RCV001825313 SCV002075183 not provided Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 05-28-2021 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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