ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.624G>A (p.Pro208=)

gnomAD frequency: 0.00004  dbSNP: rs772392202
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001215121 SCV001386847 uncertain significance Hereditary spastic paraplegia 48 2022-07-27 criteria provided, single submitter clinical testing This sequence change affects codon 208 of the AP5Z1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the AP5Z1 protein. This variant is present in population databases (rs772392202, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with AP5Z1-related conditions. ClinVar contains an entry for this variant (Variation ID: 944670). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847193 SCV002106206 uncertain significance Hereditary spastic paraplegia 2021-05-12 criteria provided, single submitter clinical testing

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