ClinVar Miner

Submissions for variant NM_015074.3(KIF1B):c.1633G>A (p.Gly545Arg) (rs145266399)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000654026 SCV000775916 likely benign Charcot-Marie-Tooth disease, type 2 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000948 SCV001158047 uncertain significance not specified 2018-12-17 criteria provided, single submitter clinical testing The KIF1B c.1633G>A; p.Gly545Arg variant (rs145266399), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 543291). This variant is found in the Latino population with an allele frequency of 0.24% (85/35,430 alleles) in the Genome Aggregation Database. The glycine at codon 545 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Gly545Arg variant is uncertain at this time.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173600 SCV001336700 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Institute of Human Genetics,Cologne University RCV000664249 SCV000787817 uncertain significance Adult proximal spinal muscular atrophy, autosomal dominant 2018-04-26 no assertion criteria provided clinical testing

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