ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.1322G>A (p.Trp441Ter)

gnomAD frequency: 0.00009  dbSNP: rs373919408
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000416330 SCV000650091 pathogenic Hereditary spastic paraplegia 48 2023-08-02 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: 375313). This premature translational stop signal has been observed in individual(s) with spastic paraplegia (PMID: 24833714). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Trp441*) in the AP5Z1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AP5Z1 are known to be pathogenic (PMID: 20613862, 27606357).
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848739 SCV002106133 pathogenic Hereditary spastic paraplegia 2018-12-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000416330 SCV003835129 pathogenic Hereditary spastic paraplegia 48 2021-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003422385 SCV004158849 pathogenic not provided 2023-06-01 criteria provided, single submitter clinical testing AP5Z1: PVS1, PM2
OMIM RCV000416330 SCV000494085 pathogenic Hereditary spastic paraplegia 48 2017-01-26 no assertion criteria provided literature only

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