ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.1648C>G (p.Gln550Glu)

gnomAD frequency: 0.00001  dbSNP: rs1384754808
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001906566 SCV002176124 uncertain significance Hermansky-Pudlak syndrome 2 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 550 of the AP3B1 protein (p.Gln550Glu). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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"). ClinVar contains an entry for this variant (Variation ID: 1402716). This variant has not been reported in the literature in individuals affected with AP3B1-related conditions.

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