ClinVar Miner

Submissions for variant NM_002241.5(KCNJ10):c.530A>G (p.Glu177Gly) (rs145947380)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724333 SCV000227255 uncertain significance not provided 2014-11-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307383 SCV000349841 uncertain significance Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348162 SCV000349842 uncertain significance Nonsyndromic Hearing Loss, Mixed 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391314 SCV000349843 uncertain significance Pendred syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000471376 SCV000552193 likely benign SeSAME syndrome 2017-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000724333 SCV000616991 uncertain significance not provided 2018-05-17 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the KCNJ10 gene. The E177G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E177G variant is observed in 48/64358 (0.07%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E177G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In silico analysis predicts this variant is probably damaging to the protein structure/function. This substitution occurs at a position that is conserved in mammals; however, Glycine is found at this position in a more distantly related species. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768246 SCV000898773 uncertain significance Enlarged vestibular aqueduct; SeSAME syndrome 2017-11-02 criteria provided, single submitter clinical testing KCNJ10 NM_002241.4 exon 2 p.Glu177Gly (c.530A>G): This variant has not been reported in the literature but is present in 0.7% (50/6682) of Ashkenazi Jewish alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs145947380). This variant is present in ClinVar (Variation ID: 195165). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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