ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.2651C>T (p.Ala884Val)

gnomAD frequency: 0.00001  dbSNP: rs1225801616
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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 RCV001959867 SCV002216591 uncertain significance Hermansky-Pudlak syndrome 2 2021-10-02 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 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"). This variant has not been reported in the literature in individuals affected with AP3B1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 884 of the AP3B1 protein (p.Ala884Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine.
Ambry Genetics RCV003247192 SCV003937770 uncertain significance Inborn genetic diseases 2023-05-24 criteria provided, single submitter clinical testing The c.2651C>T (p.A884V) alteration is located in exon 23 (coding exon 23) of the AP3B1 gene. This alteration results from a C to T substitution at nucleotide position 2651, causing the alanine (A) at amino acid position 884 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004693998 SCV005188660 uncertain significance not provided criteria provided, single submitter not provided

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