ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.1850C>T (p.Ser617Phe)

dbSNP: rs1583241907
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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 RCV001308646 SCV001498108 uncertain significance Hereditary spastic paraplegia 48 2020-06-01 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 C15"). 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 with AP5Z1-related conditions. This sequence change replaces serine with phenylalanine at codon 617 of the AP5Z1 protein (p.Ser617Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine.

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