ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.2587C>G (p.Pro863Ala)

gnomAD frequency: 0.00001  dbSNP: rs1056281695
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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 RCV001204155 SCV001375349 uncertain significance Hermansky-Pudlak syndrome 2 2024-01-29 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 863 of the AP3B1 protein (p.Pro863Ala). This variant is present in population databases (no rsID available, 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: 935536). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV002561146 SCV003739014 uncertain significance Inborn genetic diseases 2022-04-13 criteria provided, single submitter clinical testing The c.2587C>G (p.P863A) alteration is located in exon 23 (coding exon 23) of the AP3B1 gene. This alteration results from a C to G substitution at nucleotide position 2587, causing the proline (P) at amino acid position 863 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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