Submissions for variant NM_001365951.3(KIF1B):c.4211T>C (p.Val1404Ala)

gnomAD frequency: 0.00022  dbSNP: rs200561798

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001080346	SCV001009605	likely benign	Charcot-Marie-Tooth disease type 2	2023-12-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001098766	SCV001255154	uncertain significance	Neuroblastoma	2018-01-13	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001174215	SCV001337342	uncertain significance	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000143821	SCV002011655	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004019755	SCV002626467	likely benign	not specified	2020-08-04	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.
Northcott Neuroscience Laboratory, ANZAC Research Institute	RCV000143821	SCV000188715	probable-pathogenic	not provided		no assertion criteria provided	not provided	Converted during submission to Likely pathogenic.
Clinical Genetics, Academic Medical Center	RCV000143821	SCV001917043	uncertain significance	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000143821	SCV001959828	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000143821	SCV001975171	uncertain significance	not provided		no assertion criteria provided	clinical testing