ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.532T>C (p.Tyr178His)

gnomAD frequency: 0.00005  dbSNP: rs777268122
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001936952 SCV002225620 uncertain significance Hermansky-Pudlak syndrome 2 2022-02-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with AP3B1-related conditions. This variant is present in population databases (rs777268122, gnomAD 0.04%). This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 178 of the AP3B1 protein (p.Tyr178His). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.

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