ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.2446G>A (p.Val816Ile)

gnomAD frequency: 0.00006  dbSNP: rs372847987
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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 RCV001932449 SCV002135694 uncertain significance Hermansky-Pudlak syndrome 2 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 816 of the AP3B1 protein (p.Val816Ile). This variant is present in population databases (rs372847987, gnomAD 0.03%). 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: 1367287). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV004953213 SCV005451766 uncertain significance Inborn genetic diseases 2024-08-14 criteria provided, single submitter clinical testing The c.2446G>A (p.V816I) alteration is located in exon 21 (coding exon 21) of the AP3B1 gene. This alteration results from a G to A substitution at nucleotide position 2446, causing the valine (V) at amino acid position 816 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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