ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.1282A>G (p.Ile428Val)

gnomAD frequency: 0.00001  dbSNP: rs201185966
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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 RCV001205148 SCV001376388 uncertain significance Hermansky-Pudlak syndrome 2 2021-08-31 criteria provided, single submitter clinical testing 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, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with AP3B1-related conditions. This variant is present in population databases (rs201185966, ExAC 0.02%). This sequence change replaces isoleucine with valine at codon 428 of the AP3B1 protein (p.Ile428Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine.

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