ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.1580G>A (p.Ser527Asn)

dbSNP: rs779511911
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000607169 SCV000712294 likely benign not specified 2016-07-13 criteria provided, single submitter clinical testing p.Ser527Asn in exon 15 of AP3B1: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, 6 mammals have an asparagine (Asn) at this position despite high nearby am ino acid conservation. In addition, computational prediction tools do not sugges t a high likelihood of impact to the protein.
Labcorp Genetics (formerly Invitae), Labcorp RCV002531143 SCV003450016 uncertain significance Hermansky-Pudlak syndrome 2 2022-10-19 criteria provided, single submitter clinical testing 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 505163). This variant has not been reported in the literature in individuals affected with AP3B1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 527 of the AP3B1 protein (p.Ser527Asn).

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