ClinVar Miner

Submissions for variant NC_000001.10:g.(?_243303219)_(243456541_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001946821 SCV002238137 pathogenic Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2021-03-25 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 with SDCCAG8-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 1-6 of the SDCCAG8 gene, which includes the initiator codon. 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 6 of the SDCCAG8 gene. 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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