ClinVar Miner

Submissions for variant NM_001253852.3(AP4B1):c.470-6T>G

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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 RCV002574677 SCV003489978 uncertain significance Hereditary spastic paraplegia 47 2022-07-11 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 4 of the AP4B1 gene. It does not directly change the encoded amino acid sequence of the AP4B1 protein. This variant has not been reported in the literature in individuals affected with AP4B1-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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.
Ambry Genetics RCV002584687 SCV003619047 uncertain significance Inborn genetic diseases 2022-06-23 criteria provided, single submitter clinical testing The c.470-6T>G intronic alteration consists of a T to G substitution 6 nucleotides before coding exon 4 in the AP4B1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV002574677 SCV004050688 uncertain significance Hereditary spastic paraplegia 47 2023-04-11 criteria provided, single submitter clinical testing

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