ClinVar Miner

Submissions for variant NM_001253852.3(AP4B1):c.114-2A>C

dbSNP: rs879255396
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000239291 SCV000297212 pathogenic not provided 2015-11-08 criteria provided, single submitter clinical testing
Invitae RCV001854921 SCV002109329 pathogenic Hereditary spastic paraplegia 47 2023-11-06 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 2 of the AP4B1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in AP4B1 are known to be pathogenic (PMID: 22290197, 24700674, 24781758). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with hereditary spastic paraplegia (PMID: 29193663). ClinVar contains an entry for this variant (Variation ID: 252667). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV001854921 SCV004050708 pathogenic Hereditary spastic paraplegia 47 2023-04-11 criteria provided, single submitter clinical testing
Yale Center for Mendelian Genomics, Yale University RCV001849350 SCV002106829 likely pathogenic Spastic paraplegia 2020-10-01 no assertion criteria provided literature only

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