Submissions for variant NM_025137.4(SPG11):c.3068A>G (p.Glu1023Gly)

gnomAD frequency: 0.00112  dbSNP: rs143145331

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000474963	SCV000557277	likely benign	Hereditary spastic paraplegia 11	2024-12-23	criteria provided, single submitter	clinical testing
GeneDx	RCV001721516	SCV000719628	likely benign	not provided	2022-06-30	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Ambry Genetics	RCV002446868	SCV002753005	likely benign	Inborn genetic diseases	2020-02-04	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Genome-Nilou Lab	RCV002467828	SCV002764004	likely benign	Amyotrophic lateral sclerosis type 5		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002467829	SCV002764005	likely benign	Charcot-Marie-Tooth disease axonal type 2X		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000474963	SCV002764007	likely benign	Hereditary spastic paraplegia 11		criteria provided, single submitter	clinical testing