ClinVar Miner

Submissions for variant NM_001611.5(ACP5):c.500T>C (p.Phe167Ser)

dbSNP: rs764197394
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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 RCV002035159 SCV002110720 uncertain significance Spondyloenchondrodysplasia with immune dysregulation 2020-11-18 criteria provided, single submitter clinical testing 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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 ACP5-related conditions. This sequence change replaces phenylalanine with serine at codon 167 of the ACP5 protein (p.Phe167Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine. This variant is not present in population databases (ExAC no frequency).

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