ClinVar Miner

Submissions for variant NM_001253852.3(AP4B1):c.405_409del (p.Tyr135_Arg137delinsTer)

dbSNP: rs1553259463
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624591 SCV000740850 pathogenic Inborn genetic diseases 2015-03-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003525938 SCV004291972 pathogenic Hereditary spastic paraplegia 47 2023-02-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 520648). This premature translational stop signal has been observed in individual(s) with clinical features of hereditary spastic paraplegia (PMID: 26795593, 32979048). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr135*) in the AP4B1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AP4B1 are known to be pathogenic (PMID: 22290197, 24700674, 24781758).
Yale Center for Mendelian Genomics, Yale University RCV001849408 SCV002106841 likely pathogenic Spastic paraplegia 2020-10-01 no assertion criteria provided literature only

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