ClinVar Miner

Submissions for variant NC_000002.11:g.(?_189839196)_(189839314_?)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 RCV000707914 SCV000837024 pathogenic Ehlers-Danlos syndrome, type 4 2021-08-04 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 1 of the COL3A1 gene. This region includes the initiator codon of the gene. 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 COL3A1 gene. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. A similar copy number variant has been observed in individual(s) with Ehlers-Danlos syndrome (Invitae). In at least one individual the variant was observed to be de novo. For these reasons, this variant has been classified as Pathogenic.

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