ClinVar Miner

Submissions for variant NM_001278512.2(AP3B2):c.3125G>A (p.Arg1042His)

gnomAD frequency: 0.00001  dbSNP: rs779401895
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001947178 SCV002132312 uncertain significance not provided 2024-10-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1023 of the AP3B2 protein (p.Arg1023His). This variant is present in population databases (rs779401895, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with AP3B2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1367208). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
Ambry Genetics RCV002551001 SCV003586481 uncertain significance Inborn genetic diseases 2023-12-20 criteria provided, single submitter clinical testing The c.3068G>A (p.R1023H) alteration is located in exon 25 (coding exon 25) of the AP3B2 gene. This alteration results from a G to A substitution at nucleotide position 3068, causing the arginine (R) at amino acid position 1023 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
3billion, Medical Genetics RCV004728877 SCV005328984 likely benign Developmental and epileptic encephalopathy, 48 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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