Submissions for variant NM_006279.5(ST3GAL3):c.1079G>A (p.Arg360Gln)

gnomAD frequency: 0.00027  dbSNP: rs553120567

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000118417	SCV000152817	uncertain significance	not provided	2014-03-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088458	SCV000633942	likely benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-27	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000768326	SCV000898996	uncertain significance	Intellectual disability, autosomal recessive 12; Developmental and epileptic encephalopathy, 15	2021-03-30	criteria provided, single submitter	clinical testing	ST3GAL3 NM_174963.4 exon 13 p.Arg429Gln (c.1286G>A): This variant has not been reported in the literature but is present in 0.4% (135/30616) of South Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/1-44395844-G-A). This variant is present in ClinVar (Variation ID:130377). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
CeGaT Center for Human Genetics Tuebingen	RCV000118417	SCV002496876	uncertain significance	not provided	2022-01-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002415604	SCV002725055	uncertain significance	Inborn genetic diseases	2017-07-10	criteria provided, single submitter	clinical testing	The p.R360Q variant (also known as c.1079G>A), located in coding exon 11 of the ST3GAL3 gene, results from a G to A substitution at nucleotide position 1079. The arginine at codon 360 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV003975045	SCV004789494	likely benign	ST3GAL3-related disorder	2022-04-06	criteria provided, single submitter	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).