ClinVar Miner

Submissions for variant NM_001261826.3(AP3D1):c.3493T>G (p.Cys1165Gly)

dbSNP: rs2018180805
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002009482 SCV002290207 uncertain significance not provided 2021-03-31 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with AP3D1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with glycine at codon 1165 of the AP3D1 protein (p.Cys1165Gly). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and glycine.
Ambry Genetics RCV002545504 SCV003725510 uncertain significance Inborn genetic diseases 2022-09-22 criteria provided, single submitter clinical testing The c.3307T>G (p.C1103G) alteration is located in exon 29 (coding exon 29) of the AP3D1 gene. This alteration results from a T to G substitution at nucleotide position 3307, causing the cysteine (C) at amino acid position 1103 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003138040 SCV003826808 uncertain significance Hermansky-Pudlak syndrome 10 2021-04-21 criteria provided, single submitter clinical testing

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