Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002932081 | SCV003257198 | pathogenic | Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 | 2023-10-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu133*) in 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). This variant is present in population databases (rs768207230, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. ClinVar contains an entry for this variant (Variation ID: 2048826). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV002932082 | SCV003602783 | pathogenic | Inborn genetic diseases | 2022-03-07 | criteria provided, single submitter | clinical testing | The c.397G>T (p.E133*) alteration, located in exon 4 (coding exon 4) of the SDCCAG8 gene, consists of a G to T substitution at nucleotide position 397. This changes the amino acid from a glutamic acid (E) to a stop codon at amino acid position 133. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from gnomAD, the T allele has an overall frequency of <0.01% (3/251258) total alleles studied. The highest observed frequency was 0.01% (3/34558) of Latino alleles. Based on the available evidence, this alteration is classified as pathogenic. |