ClinVar Miner

Submissions for variant NM_001278512.2(AP3B2):c.881A>C (p.Lys294Thr)

gnomAD frequency: 0.00021  dbSNP: rs200983489
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000995407 SCV001149550 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV001270044 SCV001448772 uncertain significance Autism; Global developmental delay; Feeding difficulties; Delayed speech and language development; Microcephaly; Abnormality of eye movement; Generalized hypotonia; Gastroesophageal reflux; Abnormality of speech or vocalization; Hypotonia 2019-03-04 criteria provided, single submitter clinical testing
Invitae RCV000995407 SCV002285443 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 294 of the AP3B2 protein (p.Lys294Thr). This variant is present in population databases (rs200983489, gnomAD 0.04%). 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: 807299). 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 tolerated. 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.
Revvity Omics, Revvity Omics RCV003141915 SCV003826806 uncertain significance Developmental and epileptic encephalopathy, 48 2022-06-30 criteria provided, single submitter clinical testing

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