ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.2045C>T (p.Thr682Ile)

gnomAD frequency: 0.00002  dbSNP: rs1272533081
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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 RCV000795057 SCV000934498 uncertain significance Hereditary spastic paraplegia 48 2018-11-30 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 682 of the AP5Z1 protein (p.Thr682Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with AP5Z1-related conditions. 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: "Possibly 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001508575 SCV001714811 uncertain significance not provided 2020-01-23 criteria provided, single submitter clinical testing

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