Submissions for variant NM_024642.5(GALNT12):c.1213-10G>T

gnomAD frequency: 0.00001  dbSNP: rs768905490

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001065012	SCV001229950	uncertain significance	not provided	2023-12-13	criteria provided, single submitter	clinical testing	This sequence change falls in intron 6 of the GALNT12 gene. It does not directly change the encoded amino acid sequence of the GALNT12 protein. This variant is present in population databases (rs768905490, gnomAD 0.01%). 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: 859007). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001065012	SCV004219748	likely benign	not provided	2022-10-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003963029	SCV004780357	likely benign	GALNT12-related disorder	2022-12-23	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).