ClinVar Miner

Submissions for variant NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile)

gnomAD frequency: 0.00009  dbSNP: rs376478015
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145022 SCV000192059 uncertain significance Hereditary spastic paraplegia 47 2013-08-08 criteria provided, single submitter clinical testing
GeneDx RCV001797056 SCV002039028 uncertain significance not provided 2021-06-01 criteria provided, single submitter clinical testing Reported in a patient with intellectual disability who also harbored a second AP4B1 variant, although the analysis did not determine if the variants were on the same (in cis) or opposite (in trans) chromosomes (Lamichhane et al., 2013); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29193663, 32285480, 25552650, 25693842, 27625858, 27535533, 32979048, 29430868)
Ambry Genetics RCV002514784 SCV003685386 uncertain significance Inborn genetic diseases 2021-09-27 criteria provided, single submitter clinical testing The c.577G>A (p.V193I) alteration is located in exon 5 (coding exon 4) of the AP4B1 gene. This alteration results from a G to A substitution at nucleotide position 577, causing the valine (V) at amino acid position 193 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) RCV000145022 SCV003920798 pathogenic Hereditary spastic paraplegia 47 2023-04-27 criteria provided, single submitter research
Genome-Nilou Lab RCV000145022 SCV004050684 uncertain significance Hereditary spastic paraplegia 47 2023-04-11 criteria provided, single submitter clinical testing
Yale Center for Mendelian Genomics, Yale University RCV001849319 SCV002106837 likely pathogenic Spastic paraplegia 2020-10-01 no assertion criteria provided literature only

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