ClinVar Miner

Submissions for variant NC_000005.10:g.(?_78089373)_(78141339_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001033486 SCV001196793 pathogenic Hermansky-Pudlak syndrome 2 2022-03-19 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 15-22 of the AP3B1 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with AP3B1-related conditions. This variant disrupts a region of the AP3B1 protein in which other variant(s) (Deletion (Exon 15)) have been determined to be pathogenic (PMID: 16537806). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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