ClinVar Miner

Submissions for variant NC_000011.10:g.(?_44124769)_(44126975_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001033473 SCV001196780 pathogenic Exostoses, multiple, type 2 2021-08-04 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 5-6 of the EXT2 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with multiple osteochondromatosis (Invitae). This variant disrupts the p.Cys339 amino acid residue in EXT2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 19839753, 30334991). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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