ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.1933G>A (p.Asp645Asn)

dbSNP: rs797045241
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192721 SCV000246419 uncertain significance not specified 2015-05-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004649090 SCV005143920 uncertain significance Inborn genetic diseases 2024-03-19 criteria provided, single submitter clinical testing The c.1933G>A (p.D645N) alteration is located in exon 17 (coding exon 17) of the AP3B1 gene. This alteration results from a G to A substitution at nucleotide position 1933, causing the aspartic acid (D) at amino acid position 645 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV004760424 SCV005374169 uncertain significance Hermansky-Pudlak syndrome 2 2024-09-22 criteria provided, single submitter clinical testing

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