ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.2115+6213G>T

gnomAD frequency: 0.00003  dbSNP: rs587777883
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003398780 SCV004122213 likely benign not specified 2023-10-26 criteria provided, single submitter clinical testing Variant summary: KIF1B c.1977+6213G>T is located at a position not widely known to affect splicing. The variant allele was found at a frequency of 8e-06 in 250828 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1977+6213G>T has been reported in the literature in one individual affected with hereditary motor neuropathies with pyramidal signs (Drew_2015). The report does not provide unequivocal conclusions about association of the variant with KIF1B-Related Disorders. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 25802885, 30126838). One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as likely benign.
Northcott Neuroscience Laboratory, ANZAC Research Institute RCV000143826 SCV000188721 probable-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Genesis Genome Database RCV000857072 SCV000999645 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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