ClinVar Miner

Submissions for variant NM_173477.5(USH1G):c.388A>G (p.Lys130Glu) (rs111033465)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041418 SCV000065113 benign not specified 2011-09-25 criteria provided, single submitter clinical testing Lys130Glu in exon 2 of USH1G: This variant is not expected to have clinical sign ificance because it has been identified with a frequency greater than 5% in cont rols (rs111033465).
GeneDx RCV000041418 SCV000169730 benign not specified 2014-03-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV001000268 SCV000406411 benign Usher syndrome, type 1G 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514814 SCV000609656 benign not provided 2017-04-11 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000514814 SCV001146588 benign not provided 2018-09-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000268 SCV001156878 benign Usher syndrome, type 1G 2018-07-31 criteria provided, single submitter clinical testing

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