ClinVar Miner

Submissions for variant NC_000007.13:g.(?_4815347)_(5792630_?)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 RCV004583510 SCV005064616 uncertain significance Baraitser-Winter syndrome 1 2023-10-29 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the ACTB gene has been identified. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in ACTB cause disease. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. Isolated whole-gene deletions of ACTB have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 27633570, 28128450, 31898838). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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