Submissions for variant NM_001244008.2(KIF1A):c.2088C>T (p.Asn696=)

gnomAD frequency: 0.00006  dbSNP: rs758111969

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000517336	SCV000613903	uncertain significance	not specified	2017-03-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000767168	SCV000621765	uncertain significance	not provided	2021-04-14	criteria provided, single submitter	clinical testing	In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083254	SCV000638546	likely benign	Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9	2025-01-25	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848888	SCV002104830	uncertain significance	Hereditary spastic paraplegia	2018-08-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004737586	SCV005352439	likely benign	KIF1A-related disorder	2024-06-05	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).