Submissions for variant NM_012073.5(CCT5):c.1059G>A (p.Leu353=)

gnomAD frequency: 0.00353  dbSNP: rs114634318

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000862439	SCV000451819	likely benign	Hereditary sensory and autonomic neuropathy with spastic paraplegia	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 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	RCV000862439	SCV001002949	benign	Hereditary sensory and autonomic neuropathy with spastic paraplegia	2023-11-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000862439	SCV002048970	likely benign	Hereditary sensory and autonomic neuropathy with spastic paraplegia	2021-03-04	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700001	SCV001920153	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701866	SCV001927829	likely benign	not provided		no assertion criteria provided	clinical testing