ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.2129G>T (p.Gly710Val)

dbSNP: rs777032367
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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 RCV001944828 SCV002131683 uncertain significance Hermansky-Pudlak syndrome 2 2021-08-08 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 710 of the AP3B1 protein (p.Gly710Val). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and valine. 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with AP3B1-related conditions. This variant is not present in population databases (ExAC no frequency).

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