ClinVar Miner

Submissions for variant NM_004722.4(AP4M1):c.862G>C (p.Asp288His)

gnomAD frequency: 0.00001  dbSNP: rs767611212
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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 RCV002021395 SCV002315486 uncertain significance Hereditary spastic paraplegia 50 2021-12-02 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 288 of the AP4M1 protein (p.Asp288His). This variant is present in population databases (rs767611212, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with AP4M1-related conditions. 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. 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.

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