ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.8C>T (p.Ser3Leu)

gnomAD frequency: 0.00024  dbSNP: rs201971666
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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 RCV001964866 SCV002201824 uncertain significance Hereditary spastic paraplegia 48 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 3 of the AP5Z1 protein (p.Ser3Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs201971666, ExAC 0.1%). This variant has not been reported in the literature in individuals affected 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 RCV003481196 SCV004223980 uncertain significance not provided 2022-09-22 criteria provided, single submitter clinical testing BP4

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