ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.1463C>T (p.Pro488Leu)

gnomAD frequency: 0.00013  dbSNP: rs372654170
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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 RCV000467244 SCV000553702 uncertain significance Hereditary spastic paraplegia 48 2022-03-09 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 412228). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals affected with AP5Z1-related conditions. This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 488 of the AP5Z1 protein (p.Pro488Leu). This variant is present in population databases (rs372654170, gnomAD 0.04%).

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