ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.2022G>C (p.Lys674Asn)

gnomAD frequency: 0.00001  dbSNP: rs752440818
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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 RCV002031836 SCV002309701 uncertain significance Hermansky-Pudlak syndrome 2 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 674 of the AP3B1 protein (p.Lys674Asn). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with AP3B1-related conditions. 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: "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.
Ambry Genetics RCV002550493 SCV003562941 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing The c.2022G>C (p.K674N) alteration is located in exon 18 (coding exon 18) of the AP3B1 gene. This alteration results from a G to C substitution at nucleotide position 2022, causing the lysine (K) at amino acid position 674 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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