ClinVar Miner

Submissions for variant NM_004722.4(AP4M1):c.10C>T (p.Gln4Ter)

gnomAD frequency: 0.00001  dbSNP: rs777220438
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Strasbourg University Hospital RCV001260895 SCV001437995 pathogenic Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001879998 SCV002234035 pathogenic Hereditary spastic paraplegia 50 2022-03-04 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: 981454). This premature translational stop signal has been observed in individual(s) with hereditary spastic paraplegia (PMID: 33813722). This variant is present in population databases (rs777220438, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Gln4*) 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).
Mayo Clinic Laboratories, Mayo Clinic RCV002246252 SCV002520035 likely pathogenic not provided 2021-04-19 criteria provided, single submitter clinical testing PVS1, PM2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV001879998 SCV004099396 pathogenic Hereditary spastic paraplegia 50 2023-10-30 no assertion criteria provided clinical testing

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