ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.2007G>T (p.Glu669Asp)

gnomAD frequency: 0.00001  dbSNP: rs781781671
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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 RCV001879583 SCV002143687 uncertain significance Hermansky-Pudlak syndrome 2 2023-12-04 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 669 of the AP3B1 protein (p.Glu669Asp). This variant is present in population databases (rs781781671, gnomAD 0.01%). 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: 1375262). 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 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 RCV004651769 SCV005143931 uncertain significance Inborn genetic diseases 2024-04-23 criteria provided, single submitter clinical testing The c.2007G>T (p.E669D) alteration is located in exon 18 (coding exon 18) of the AP3B1 gene. This alteration results from a G to T substitution at nucleotide position 2007, causing the glutamic acid (E) at amino acid position 669 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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