ClinVar Miner

Submissions for variant NC_000017.10:g.(?_6328760)_(6616672_?)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 RCV000708070 SCV000837180 pathogenic Developmental and epileptic encephalopathy, 25 2018-12-11 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the SLC13A5 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with SLC13A5-related disease. Loss-of-function variants in SLC13A5 are known to be pathogenic (PMID: 24995870, 26384929). For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001386952 SCV001587382 pathogenic Leber congenital amaurosis 4 2022-03-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with AIPL1-related conditions. A gross deletion of the genomic region encompassing the full coding sequence of the AIPL1 gene has been identified. Loss-of-function variants in AIPL1 are known to be pathogenic (PMID: 10615133, 15249368, 15347646). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes.

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