ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.764A>T (p.Gln255Leu)

dbSNP: rs1260956613
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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 RCV001036550 SCV001199919 uncertain significance Hermansky-Pudlak syndrome 2 2019-12-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with AP3B1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with leucine at codon 255 of the AP3B1 protein (p.Gln255Leu). The glutamine residue is moderately conserved and there is a moderate physicochemical difference between glutamine and leucine. 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.

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