ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1575del (p.Glu526fs)

dbSNP: rs1390963789
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761352 SCV000891338 likely pathogenic Senior-Loken syndrome 7 2018-06-01 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV000761352 SCV002820091 likely pathogenic Senior-Loken syndrome 7 criteria provided, single submitter clinical testing The frameshift deletion p.E526Nfs*42 in SDCCAG8 (NM_006642.5) has been reported to ClinVar as Likely Pathogenic but no details are available for independent assessment. The p.E526Nfs*42 variant is observed in 1/30,614 (0.0033%) alleles from individuals of South Asian background in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes but was not seen in the homozygous state. This variant is predicted to cause loss of normal protein function through protein truncation caused a frameshift mutation. Loss of function variants have been reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV002533866 SCV003317156 pathogenic Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2023-05-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 623227). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Glu526Asnfs*42) 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).

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