ClinVar Miner

Submissions for variant NM_003664.4(AP3B1):c.2188C>T (p.Arg730Trp) (rs141102178)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000276741 SCV000458291 uncertain significance Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000640579 SCV000762173 uncertain significance Hermansky Pudlak syndrome 2 2018-12-19 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 730 of the AP3B1 protein (p.Arg730Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs141102178, ExAC 0.2%). This variant has not been reported in the literature in individuals with AP3B1-related conditions. ClinVar contains an entry for this variant (Variation ID: 354231). 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: "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.
Fulgent Genetics,Fulgent Genetics RCV000640579 SCV000895717 uncertain significance Hermansky Pudlak syndrome 2 2018-10-31 criteria provided, single submitter clinical testing

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