ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.2_13dup (p.Arg4_Thr5insMetTrpGlyArg)

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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 RCV004059458 SCV002724219 uncertain significance not specified 2021-10-14 criteria provided, single submitter clinical testing The c.2_13dup12 variant (also known as p.M1_R4dup), located in coding exon 1 of the GALNT12 gene, results from an in-frame duplication of 12 nucleotides at nucleotide positions 2 to 13. This results in the duplication of 4 extra residues (MWGR) between codons 1 and 4. This amino acid region is not well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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