ClinVar Miner

Submissions for variant NC_000001.10:g.(?_243385006)_(243480215_?)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 RCV004584121 SCV005066517 pathogenic Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-12-27 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 SDCCAG8-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 1-9 of the SDCCAG8 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SDCCAG8 are known to be pathogenic (PMID: 20835237, 22190896).

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