ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2896-18T>A

gnomAD frequency: 0.00001  dbSNP: rs528968559
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328839 SCV001520060 uncertain significance Hydrolethalus syndrome 2 2020-01-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001871796 SCV002117558 uncertain significance Acrocallosal syndrome 2022-07-06 criteria provided, single submitter clinical testing This sequence change falls in intron 14 of the KIF7 gene. It does not directly change the encoded amino acid sequence of the KIF7 protein. This variant is present in population databases (rs528968559, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with KIF7-related conditions. ClinVar contains an entry for this variant (Variation ID: 1027931). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV005014434 SCV005642893 uncertain significance Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2 2024-06-03 criteria provided, single submitter clinical testing

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