ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.815C>G (p.Ser272Cys)

dbSNP: rs745607941
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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 RCV001063847 SCV001228710 uncertain significance Hereditary spastic paraplegia 48 2019-11-19 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 272 of the AP5Z1 protein (p.Ser272Cys). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and cysteine. 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. 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"). This variant has not been reported in the literature in individuals with AP5Z1-related conditions. This variant is present in population databases (rs745607941, ExAC 0.002%).

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