ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.530-18G>A

gnomAD frequency: 0.00001  dbSNP: rs775287284
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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 RCV002031479 SCV002312387 uncertain significance Acrocallosal syndrome 2021-04-09 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with KIF7-related conditions. While this variant is present in population databases (rs775287284), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change falls in intron 3 of the KIF7 gene. It does not directly change the encoded amino acid sequence of the KIF7 protein.

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