ClinVar Miner

Submissions for variant NM_004722.4(AP4M1):c.142del (p.Val48fs)

gnomAD frequency: 0.00001  dbSNP: rs764326593
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV002267591 SCV002549721 likely pathogenic Hereditary spastic paraplegia 50 2022-07-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002267591 SCV005804116 pathogenic Hereditary spastic paraplegia 50 2024-11-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val48Serfs*33) in the AP4M1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AP4M1 are known to be pathogenic (PMID: 24700674, 25496299, 25558065). This variant is present in population databases (rs764326593, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with AP4M1-related conditions (PMID: 37486637). ClinVar contains an entry for this variant (Variation ID: 1697248). For these reasons, this variant has been classified as Pathogenic.

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