Submissions for variant NM_017755.6(NSUN2):c.2300G>A (p.Arg767Gln)

gnomAD frequency: 0.00371  dbSNP: rs140673211

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000193914	SCV000248359	likely benign	not specified	2015-07-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000281579	SCV000458074	likely benign	Intellectual disability, autosomal recessive 5	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000434232	SCV000511272	likely benign	not provided	2016-12-27	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Ambry Genetics	RCV002314837	SCV000848016	uncertain significance	Inborn genetic diseases	2018-12-07	criteria provided, single submitter	clinical testing	The p.R767Q variant (also known as c.2300G>A), located in coding exon 19 of the NSUN2 gene, results from a G to A substitution at nucleotide position 2300. The arginine at codon 767 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Invitae	RCV000434232	SCV001095757	likely benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000434232	SCV001767999	likely benign	not provided	2022-12-11	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen	RCV000434232	SCV003916932	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	NSUN2: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003917762	SCV004734090	likely benign	NSUN2-related condition	2020-03-31	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).