Submissions for variant NM_015915.5(ATL1):c.570C>G (p.Leu190=)

gnomAD frequency: 0.00004  dbSNP: rs202173614

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000647938	SCV000769745	benign	Hereditary spastic paraplegia 3A	2023-08-04	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000647938	SCV001269545	benign	Hereditary spastic paraplegia 3A	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001849026	SCV002106235	likely benign	Hereditary spastic paraplegia	2021-02-24	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002260038	SCV002539594	benign	Neuropathy, hereditary sensory, type 1D	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000647938	SCV002539595	benign	Hereditary spastic paraplegia 3A	2021-12-05	criteria provided, single submitter	clinical testing