ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.65A>T (p.Gln22Leu)

dbSNP: rs1302695682
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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 RCV001060191 SCV001224867 uncertain significance Hermansky-Pudlak syndrome 2 2020-07-13 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with AP3B1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with leucine at codon 22 of the AP3B1 protein (p.Gln22Leu). The glutamine residue is moderately conserved and there is a moderate physicochemical difference between glutamine and leucine.
Ambry Genetics RCV003353136 SCV004078494 uncertain significance Inborn genetic diseases 2023-06-23 criteria provided, single submitter clinical testing The c.65A>T (p.Q22L) alteration is located in exon 1 (coding exon 1) of the AP3B1 gene. This alteration results from a A to T substitution at nucleotide position 65, causing the glutamine (Q) at amino acid position 22 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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