ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.1325G>A (p.Cys442Tyr)

gnomAD frequency: 0.00004  dbSNP: rs1032054339
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000801002 SCV000940750 uncertain significance Hermansky-Pudlak syndrome 2 2023-04-06 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 646666). This variant has not been reported in the literature in individuals affected with AP3B1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 442 of the AP3B1 protein (p.Cys442Tyr).
Ambry Genetics RCV002534666 SCV003553657 uncertain significance Inborn genetic diseases 2022-11-08 criteria provided, single submitter clinical testing The c.1325G>A (p.C442Y) alteration is located in exon 13 (coding exon 13) of the AP3B1 gene. This alteration results from a G to A substitution at nucleotide position 1325, causing the cysteine (C) at amino acid position 442 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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