Submissions for variant NM_024642.5(GALNT12):c.897del (p.Gln299fs)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV004054902	SCV002682399	uncertain significance	not specified	2024-03-11	criteria provided, single submitter	clinical testing	The c.897delA variant, located in coding exon 4 of the GALNT12 gene, results from a deletion of one nucleotide at nucleotide position 897, causing a translational frameshift with a predicted alternate stop codon (p.Q299Hfs*19). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003103546	SCV003287335	uncertain significance	not provided	2022-08-09	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gln299Hisfs*19) in the GALNT12 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in GALNT12 cause disease. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GALNT12-related conditions. 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.