ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.3131+1G>A

gnomAD frequency: 0.00001  dbSNP: rs766116144
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001986758 SCV002286338 uncertain significance Hermansky-Pudlak syndrome 2 2023-10-13 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 26 of the AP3B1 gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is present in population databases (rs766116144, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with AP3B1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1493808). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Baylor Genetics RCV001986758 SCV004197051 uncertain significance Hermansky-Pudlak syndrome 2 2024-08-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001986758 SCV005673093 likely pathogenic Hermansky-Pudlak syndrome 2 2024-06-07 criteria provided, single submitter clinical testing

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