ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.721C>T (p.Gln241Ter)

gnomAD frequency: 0.00001  dbSNP: rs751778396
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000991543 SCV001143050 likely pathogenic not provided 2019-02-04 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein.
Labcorp Genetics (formerly Invitae), Labcorp RCV002549762 SCV003478410 pathogenic Hereditary spastic paraplegia 48 2022-06-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln241*) 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). 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. For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 804541). This variant has not been reported in the literature in individuals affected with AP5Z1-related conditions.

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