Submissions for variant NM_003119.4(SPG7):c.881G>A (p.Arg294His)

gnomAD frequency: 0.01169  dbSNP: rs115661328

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000128198	SCV000171790	benign	not specified	2013-05-23	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc	RCV000713488	SCV000844106	benign	not provided	2017-11-21	criteria provided, single submitter	clinical testing
Invitae	RCV001001627	SCV001000831	benign	Hereditary spastic paraplegia 7	2024-01-27	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001001627	SCV001159105	benign	Hereditary spastic paraplegia 7	2023-10-11	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001001627	SCV001274792	benign	Hereditary spastic paraplegia 7	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.