ClinVar Miner

Submissions for variant NM_001253852.3(AP4B1):c.1217G>A (p.Arg406Gln)

gnomAD frequency: 0.00003  dbSNP: rs145803736
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315401 SCV000849257 uncertain significance Inborn genetic diseases 2017-03-29 criteria provided, single submitter clinical testing The p.R406Q variant (also known as c.1217G>A), located in coding exon 7 of the AP4B1 gene, results from a G to A substitution at nucleotide position 1217. The arginine at codon 406 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002534570 SCV003451190 uncertain significance Hereditary spastic paraplegia 47 2022-06-08 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 406 of the AP4B1 protein (p.Arg406Gln). This variant is present in population databases (rs145803736, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with AP4B1-related conditions. ClinVar contains an entry for this variant (Variation ID: 588907). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; 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.
Genome-Nilou Lab RCV002534570 SCV004050658 uncertain significance Hereditary spastic paraplegia 47 2023-04-11 criteria provided, single submitter clinical testing

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