Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
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, |
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 |