Submissions for variant NM_017755.6(NSUN2):c.222C>T (p.Leu74=)

gnomAD frequency: 0.00159  dbSNP: rs138716662

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000193967	SCV000248356	likely benign	not specified	2017-04-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314836	SCV000847488	likely benign	Inborn genetic diseases	2016-08-24	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae	RCV000973641	SCV001121409	benign	not provided	2024-01-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001152663	SCV001313886	likely benign	Intellectual disability, autosomal recessive 5	2018-01-12	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.
GeneDx	RCV000973641	SCV001819277	likely benign	not provided	2020-11-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000973641	SCV003916933	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	NSUN2: BP4