ClinVar Miner

Submissions for variant NC_000009.11:g.(?_137721802)_(137734169_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560385 SCV000631440 uncertain significance Ehlers-Danlos syndrome, classic type 2017-03-26 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 64-66 of the COL5A1 gene. The 5' boundary is likely confined to intron 63. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant is not present in population databases and has not been reported in the literature in individuals with a COL5A1-related disease. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on COL5A1 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.

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