Submissions for variant NM_001166114.2(PNPLA6):c.3094-5C>T

gnomAD frequency: 0.01066  dbSNP: rs116788699

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000230592	SCV000289582	benign	Hereditary spastic paraplegia 39	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000518189	SCV000614691	benign	not specified	2016-12-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000230592	SCV001292289	likely benign	Hereditary spastic paraplegia 39	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV001550269	SCV001770572	likely benign	not provided	2020-01-24	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847965	SCV002105511	likely benign	Hereditary spastic paraplegia	2021-04-08	criteria provided, single submitter	clinical testing