Submissions for variant NM_005619.5(RTN2):c.986G>A (p.Ser329Asn)

gnomAD frequency: 0.00004  dbSNP: rs145653668

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000269406	SCV000413617	likely benign	Hereditary spastic paraplegia 12	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.
Invitae	RCV001850768	SCV002230392	likely benign	Spastic paraplegia	2023-08-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002523071	SCV003604052	uncertain significance	Inborn genetic diseases	2022-01-04	criteria provided, single submitter	clinical testing	The c.986G>A (p.S329N) alteration is located in exon 5 (coding exon 5) of the RTN2 gene. This alteration results from a G to A substitution at nucleotide position 986, causing the serine (S) at amino acid position 329 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV003409524	SCV004139773	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	RTN2: BP4