Submissions for variant NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser)

gnomAD frequency: 0.00369  dbSNP: rs143037290

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000176875	SCV000247722	likely benign	not specified	2015-06-24	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000176875	SCV000334700	benign	not specified	2015-09-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000415745	SCV000493424	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	KIF1A: BP4, BS2
GeneDx	RCV000415745	SCV000513407	benign	not provided	2019-07-23	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21376300)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084426	SCV000638569	benign	Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9	2025-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000715995	SCV000846828	likely benign	History of neurodevelopmental disorder	2019-03-18	criteria provided, single submitter	clinical testing	In silico models in agreement (benign);Sub-population frequency in support of benign classification (not ava blue, manual h-w);Subpopulation frequency in support of benign classification
Mendelics	RCV000987072	SCV001136265	likely benign	Hereditary spastic paraplegia 30	2019-05-28	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000176875	SCV001144372	benign	not specified	2024-03-07	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000415745	SCV001158853	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000987072	SCV001296759	uncertain significance	Hereditary spastic paraplegia 30	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847816	SCV002104855	likely benign	Hereditary spastic paraplegia	2019-02-01	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000415745	SCV001797406	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000415745	SCV001923825	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000415745	SCV001927772	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000415745	SCV001966486	likely benign	not provided		no assertion criteria provided	clinical testing