ClinVar Miner

Submissions for variant NM_004722.4(AP4M1):c.1013G>A (p.Arg338Gln)

gnomAD frequency: 0.00001  dbSNP: rs536356225
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001774328 SCV002002152 uncertain significance not provided 2020-06-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001868572 SCV002288540 uncertain significance Hereditary spastic paraplegia 50 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 338 of the AP4M1 protein (p.Arg338Gln). This variant is present in population databases (rs536356225, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with AP4M1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1312874). 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: "Benign"; Align-GVGD: "Class C0"). 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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