ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.1297A>G (p.Thr433Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002654307 SCV002979585 uncertain significance Hermansky-Pudlak syndrome 2 2022-08-15 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 433 of the AP3B1 protein (p.Thr433Ala). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with AP3B1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV004958691 SCV005451830 uncertain significance Inborn genetic diseases 2024-12-10 criteria provided, single submitter clinical testing The c.1297A>G (p.T433A) alteration is located in exon 13 (coding exon 13) of the AP3B1 gene. This alteration results from a A to G substitution at nucleotide position 1297, causing the threonine (T) at amino acid position 433 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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