ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.4338A>G (p.Leu1446=)

gnomAD frequency: 0.00014  dbSNP: rs143112560
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000863360 SCV001004009 likely benign Charcot-Marie-Tooth disease type 2 2023-11-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001098768 SCV001255156 likely benign Neuroblastoma 2018-01-12 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CeGaT Center for Human Genetics Tuebingen RCV001530984 SCV001745905 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing KIF1B: BP4, BP7
Ambry Genetics RCV004029333 SCV002631513 benign not specified 2020-09-17 criteria provided, single submitter clinical testing This alteration is classified as 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.

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