ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.166_174dup (p.Pro56_Pro58dup)

dbSNP: rs1379414621
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000806893 SCV000946914 uncertain significance not provided 2024-10-19 criteria provided, single submitter clinical testing This variant, c.166_174dup, results in the insertion of 3 amino acid(s) of the GALNT12 protein (p.Pro56_Pro58dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with GALNT12-related conditions. ClinVar contains an entry for this variant (Variation ID: 651515). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Ambry Genetics RCV004028263 SCV001173024 uncertain significance not specified 2023-11-30 criteria provided, single submitter clinical testing The c.166_174dupCCGCGCCCC variant (also known as p.P56_P58dup), located in coding exon 1 of the GALNT12 gene, results from an in-frame duplication of CCGCGCCCC at nucleotide positions 166 to 174. This results in the duplication of 3 extra residues (PRP) between codons 56 and 58. The duplicated 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). The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000806893 SCV005623149 uncertain significance not provided 2024-07-29 criteria provided, single submitter clinical testing The GALNT12 c.166_174dup (p.Pro56_Pro58dup) variant has been reported in the published literature in an individual/family affected with breast cancer (PMID: 36315513 (2022)). The variant was also identified in the general population, 0.0002 (3/14740 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)). Based on the available information, we are unable to determine the clinical significance of this variant.
Fulgent Genetics, Fulgent Genetics RCV005047092 SCV005677628 uncertain significance Colorectal cancer, susceptibility to, 1 2024-03-17 criteria provided, single submitter clinical testing

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