ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.3202C>T (p.Arg1068Trp)

gnomAD frequency: 0.00026  dbSNP: rs147191956
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000638556 SCV000760081 benign Acrocallosal syndrome 2023-12-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000638556 SCV001278166 uncertain significance Acrocallosal syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV001591424 SCV001814663 uncertain significance not provided 2020-01-23 criteria provided, single submitter clinical testing Identified as a single heterozygous variant in an individual with Bardet-Biedl syndrome who also harbored two frameshift variants in the BBS9 gene (Putoux et al., 2011); Identified in an individual with a favorable disease course as part of a study evaluating genetic variants in individuals with favorable or poor disease course after sepsis (Taudien et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 21552264, 27639823)
PreventionGenetics, part of Exact Sciences RCV003905722 SCV004721121 likely benign KIF7-related disorder 2020-12-23 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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