ClinVar Miner

Submissions for variant NC_000001.10:g.(?_228194830)_(228566496_?)del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004583927 SCV005065044 pathogenic Spastic paraplegia 2024-01-18 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the GJC2 gene has been identified. Loss-of-function variants in GJC2 are known to be pathogenic (PMID: 18094336). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with GJC2-related conditions. For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV004583928 SCV005066505 pathogenic Multiple mitochondrial dysfunctions syndrome 3; Hereditary spastic paraplegia 74 2024-01-18 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the IBA57 gene has been identified. Loss-of-function variants in IBA57 are known to be pathogenic (PMID: 23462291, 25971455, 27785568, 28671726). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with IBA57-related conditions. For these reasons, this variant has been classified as Pathogenic.

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