Submissions for variant NM_001244008.2(KIF1A):c.3681G>A (p.Pro1227=)

gnomAD frequency: 0.00018  dbSNP: rs370913170

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000433798	SCV000534249	likely benign	not specified	2016-11-30	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000543372	SCV000638586	benign	Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9	2024-01-27	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848792	SCV002104865	likely benign	Hereditary spastic paraplegia	2020-11-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002451046	SCV002616094	likely benign	Inborn genetic diseases	2017-09-06	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV003431010	SCV004149662	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	KIF1A: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV003431010	SCV005261923	likely benign	not provided		criteria provided, single submitter	not provided