ClinVar Miner

Submissions for variant NC_000017.10:g.(?_2573437)_(2576071_?)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 RCV003111216 SCV003793234 pathogenic not provided 2023-11-12 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 6-7 of the PAFAH1B1 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 PAFAH1B1 are known to be pathogenic (PMID: 1671808, 11115846, 14581661). A similar copy number variant has been observed in individuals with lissencephaly (PMID: 26494205, 29671837). For these reasons, this variant has been classified as Pathogenic.

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