ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.139_152dup (p.Pro52fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004517665 SCV005028810 uncertain significance not specified 2023-12-18 criteria provided, single submitter clinical testing The c.139_152dup14 variant, located in coding exon 1 of the GALNT12 gene, results from a duplication of GCTGCCGAGCCGGG at nucleotide position 139, causing a translational frameshift with a predicted alternate stop codon (p.P52Lfs*96). The predicted stop codon occurs in the 5’ end of theGALNT12 gene. Premature termination codons in the 5’ end of a gene have been reported to escape nonsense-mediated mRNAdecay and/or lead to re-initiation (Rivas et al. Science. 2015 May 8;348(6235):666-9; Lindeboom et al. Nat Genet. 2016 Oct;48(10):1112-8; Rhee et al. Sci Rep. 2017 May 10;7(1):1653). The exact functional effect of this alteration is unknown. In addition, the evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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