Submissions for variant NM_002156.5(HSPD1):c.1360T>C (p.Leu454=)

gnomAD frequency: 0.00727  dbSNP: rs147135152

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000231961	SCV000287301	benign	Spastic paraplegia	2024-01-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000296973	SCV000425846	benign	Hereditary spastic paraplegia 13	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics Inc	RCV001658057	SCV001879812	benign	not specified	2020-10-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001668395	SCV001889902	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847956	SCV002104748	benign	Hereditary spastic paraplegia	2021-05-14	criteria provided, single submitter	clinical testing