ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.3044A>G (p.Gln1015Arg)

gnomAD frequency: 0.00001  dbSNP: rs780143358
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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 RCV002040455 SCV002297782 uncertain significance Hermansky-Pudlak syndrome 2 2021-11-21 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1015 of the AP3B1 protein (p.Gln1015Arg). This variant is present in population databases (rs780143358, gnomAD 0.009%). 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 RCV002545539 SCV003624615 uncertain significance Inborn genetic diseases 2022-05-27 criteria provided, single submitter clinical testing The c.3044A>G (p.Q1015R) alteration is located in exon 26 (coding exon 26) of the AP3B1 gene. This alteration results from a A to G substitution at nucleotide position 3044, causing the glutamine (Q) at amino acid position 1015 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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