ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.1443+5C>T

gnomAD frequency: 0.00043  dbSNP: rs778312422
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001888854 SCV002155790 uncertain significance Acrocallosal syndrome 2022-11-01 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the KIF7 gene. It does not directly change the encoded amino acid sequence of the KIF7 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs778312422, gnomAD 0.2%). 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: 1385511). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
GeneDx RCV003236904 SCV003935649 uncertain significance not provided 2024-07-30 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005006153 SCV005642996 uncertain significance Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2 2024-04-25 criteria provided, single submitter clinical testing

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