Submissions for variant NM_014946.4(SPAST):c.586+9_586+12del

dbSNP: rs554544808

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000377887	SCV000430101	likely benign	Spastic paraplegia, autosomal dominant	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085042	SCV000645358	likely benign	Hereditary spastic paraplegia 4	2024-11-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000533695	SCV001152221	uncertain significance	not provided	2021-03-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000533695	SCV001776747	likely benign	not provided	2019-10-21	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 11402104)
Athena Diagnostics	RCV001660698	SCV001880494	benign	not specified	2021-04-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004752857	SCV005362564	uncertain significance	SPAST-related disorder	2024-09-10	no assertion criteria provided	clinical testing	The SPAST c.586+9_586+12delTAAT variant is predicted to result in an intronic deletion. This variant was reported as a heterozygous variant in individuals with spastic paraplegia (Higgins et al. 2001. PubMed ID: 11402104; Supplemental Table 1, Rattay et al. 2023. PubMed ID: 35472722). This variant is reported in 0.040% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.