ClinVar Miner

Submissions for variant NC_000003.11:g.(?_9470623)_(9485121_?)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 RCV001959002 SCV002243829 pathogenic not provided 2021-02-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with SETD5-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 3-11 of the SETD5 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 11 of the SETD5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SETD5 are known to be pathogenic (PMID: 24680889).

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