ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2487_2488delinsTT (p.Gln829_Leu830delinsHisPhe)

dbSNP: rs2142002481
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001961015 SCV002239330 uncertain significance Acrocallosal syndrome 2021-05-19 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant, c.2487_2488delinsTT, is a complex sequence change that results in the deletion of two and insertion of two amino acid(s) in the KIF7 protein (p.Gln829_Leu830delinsHisPhe). The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This variant has not been reported in the literature in individuals with KIF7-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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