ClinVar Miner

Submissions for variant NC_000010.11:g.(?_73998188)_(73998395_?)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 RCV000807237 SCV000947280 uncertain significance Dilated cardiomyopathy 1W 2018-07-17 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 1 of the VCL 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 1 of the VCL gene. This is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with VCL-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in VCL cause disease. 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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