ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.2018A>G (p.Lys673Arg)

gnomAD frequency: 0.00001  dbSNP: rs763619135
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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 RCV000691030 SCV000818769 uncertain significance Hermansky-Pudlak syndrome 2 2022-10-27 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 673 of the AP3B1 protein (p.Lys673Arg). This variant is present in population databases (rs763619135, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with AP3B1-related conditions. ClinVar contains an entry for this variant (Variation ID: 570217). 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. 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.
Ambry Genetics RCV004639325 SCV005142266 uncertain significance Inborn genetic diseases 2024-03-30 criteria provided, single submitter clinical testing The c.2018A>G (p.K673R) alteration is located in exon 18 (coding exon 18) of the AP3B1 gene. This alteration results from a A to G substitution at nucleotide position 2018, causing the lysine (K) at amino acid position 673 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV004792381 SCV005411810 uncertain significance not provided 2023-10-03 criteria provided, single submitter clinical testing

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