ClinVar Miner

Submissions for variant NM_001199251.3(SGO1):c.67A>G (p.Lys23Glu)

gnomAD frequency: 0.00015  dbSNP: rs199815268
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001570037 SCV001794232 pathogenic not provided 2023-01-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In vitro studies in patient fibroblasts with homozygous p.K23E suggest abnormal cell progression, cell signalling, epigenetic modifications, and protein expression compared to controls (Chetaille et al., 2014; Piche et al., 2019); This variant is associated with the following publications: (PMID: 31516082, 30739867, 25282101, 35799243, 32213217, 33953173)
Fulgent Genetics, Fulgent Genetics RCV000150047 SCV002791087 pathogenic Chronic atrial and intestinal dysrhythmia 2022-04-12 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV000150047 SCV005044831 pathogenic Chronic atrial and intestinal dysrhythmia criteria provided, single submitter clinical testing The missense c.67A>G p.Lys23Glu variant in SGO1 gene has been reported in homozygous state in multiple individuals affected with gastrointestinal disorder Chetaille et al., 2014. In vitro studies in patient fibroblasts with homozygous p.Lys23Glu suggest abnormal cell progression, cell signalling, epigenetic modifications, and protein expression compared to controls Chetaille et al., 2014. The variant is reported with allele frequency of 0.02% in gnomAD Exomes and is novel not in any individuals in 1000 Genomes. This variant has been reported to the ClinVar database as Pathogenic multiple submissions. The amino acid change p.Lys23Glu in SGO1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Lys at position 23 is changed to a Glu changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Pathogenic.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV005404271 SCV006066064 pathogenic Cardiovascular phenotype 2024-05-09 criteria provided, single submitter clinical testing PS3, PS4, PP1_mod, PP3, PP5
OMIM RCV000150047 SCV000196917 pathogenic Chronic atrial and intestinal dysrhythmia 2014-11-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV004758652 SCV005362942 likely pathogenic SGO1-related disorder 2024-07-01 no assertion criteria provided clinical testing The SGO1 c.67A>G variant is predicted to result in the amino acid substitution p.Lys23Glu. This missense change has been documented in the homozygous state in multiple unrelated individuals with chronic atrial and intestinal dysrhythmia, and functional studies support its pathogenicity (Chetaille et al 2014. PubMed ID: 25282101; Piché et al. 2019. PubMed ID: 30739867). This variant is reported in 0.031% of alleles in individuals of Latino descent in gnomAD. This variant is interpreted as likely pathogenic.

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