ClinVar Miner

Submissions for variant NC_000009.12:g.(?_134842137)_(134842323_?)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 RCV000634699 SCV000756033 uncertain significance Ehlers-Danlos syndrome, classic type 2019-03-19 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 66 of the COL5A1 gene. The 5' boundary is likely confined to intron 65. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant has not been reported in the literature in individuals with COL5A1-related 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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