ClinVar Miner

Submissions for variant NC_000015.9:g.(?_55520787)_(55522704_?)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 RCV004583039 SCV005064113 pathogenic Griscelli syndrome type 2 2023-01-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individual(s) with Griscelli syndrome (PMID: 10835631). This variant is a gross deletion of the genomic region encompassing exon(s) 3-4 of the RAB27A gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in RAB27A are known to be pathogenic (PMID: 10835631, 23160464).

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