ClinVar Miner

Submissions for variant NM_001253852.3(AP4B1):c.1679T>G (p.Phe560Cys)

gnomAD frequency: 0.00002  dbSNP: rs780654750
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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 RCV002012326 SCV002230165 uncertain significance Hereditary spastic paraplegia 47 2021-07-11 criteria provided, single submitter clinical testing 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with AP4B1-related conditions. This variant is present in population databases (rs780654750, ExAC 0.01%). This sequence change replaces phenylalanine with cysteine at codon 560 of the AP4B1 protein (p.Phe560Cys). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and cysteine.

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