ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.1193A>G (p.Asn398Ser)

dbSNP: rs759936403
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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 RCV000799737 SCV000939413 uncertain significance Hermansky-Pudlak syndrome 2 2022-06-02 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 645618). 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. 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. This variant has not been reported in the literature in individuals affected with AP3B1-related conditions. This variant is present in population databases (rs759936403, gnomAD 0.0009%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 398 of the AP3B1 protein (p.Asn398Ser).

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