ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.1642C>T (p.Arg548Cys)

gnomAD frequency: 0.00003  dbSNP: rs777692803
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848319 SCV002106149 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002545265 SCV003250212 uncertain significance Hereditary spastic paraplegia 48 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 548 of the AP5Z1 protein (p.Arg548Cys). This variant is present in population databases (rs777692803, 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: 1344216). 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: "Probably Damaging"; 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.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV002545265 SCV004809621 uncertain significance Hereditary spastic paraplegia 48 2024-04-04 criteria provided, single submitter clinical testing

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