ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.140_141insCGGCGC (p.42_43GA[4])

dbSNP: rs1238412781
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004030319 SCV001171687 uncertain significance not specified 2023-10-05 criteria provided, single submitter clinical testing The c.140_141insCGGCGC variant (also known as p.G46_A47dup), located in coding exon 1 of the GALNT12 gene, results from an in-frame CGGCGC insertion at nucleotide positions 140 to 141. This results in the insertion of 2 extra residues between codons 46 and 47. This amino acid region is poorly conserved on limited sequence alignment. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002549340 SCV002966831 uncertain significance not provided 2023-04-28 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 819114). This variant has not been reported in the literature in individuals affected with GALNT12-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant, c.140_141insCGGCGC, results in the insertion of 2 amino acid(s) of the GALNT12 protein (p.Gly46_Ala47dup), but otherwise preserves the integrity of the reading frame.

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