ClinVar Miner

Submissions for variant NC_000017.10:g.(?_2568646)_(2579920_?)dup

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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 RCV003111218 SCV003793237 pathogenic not provided 2023-12-18 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 3-9 of the PAFAH1B1 gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be out-of-frame, and may result in an absent or disrupted protein product. Loss-of-function variants in PAFAH1B1 are known to be pathogenic (PMID: 1671808, 11115846, 14581661). A similar copy number variant has been observed in individuals with clinical features of PAFAH1B1-related conditions (PMID: 19050731; Invitae). For these reasons, this variant has been classified as Pathogenic.

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