ClinVar Miner

Submissions for variant NM_003664.4(AP3B1):c.2779G>A (p.Gly927Ser) (rs746205404)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704289 SCV000833232 uncertain significance Hermansky Pudlak syndrome 2 2018-01-18 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 927 of the AP3B1 protein (p.Gly927Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with AP3B1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; 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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