ClinVar Miner

Submissions for variant NM_004722.4(AP4M1):c.403C>T (p.Gln135Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003871514 SCV004680692 pathogenic Hereditary spastic paraplegia 50 2023-10-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln135*) 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 (rs751742955, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with AP4M1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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