ClinVar Miner

Submissions for variant NM_004086.3(COCH):c.272G>A (p.Arg91Gln) (rs188283330)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD, LLC RCV000597638 SCV000705947 uncertain significance not provided 2017-02-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000999885 SCV000885205 uncertain significance not specified 2019-05-10 criteria provided, single submitter clinical testing The COCH c.272G>A; p.Arg91Gln variant (rs188283330), to our knowledge, is not reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the genome Aggregation Database (gnomAD) with an East Asian population frequency of 0.16% (identified on 30 out of 18,870 chromosomes). The arginine at position 91 is moderately conserved, considering 12 species, and computational analyses of the effects of the p.Arg91Gln variant on protein structure and function make conflicting predictions (SIFT: tolerated, PolyPhen-2: probably damaging). Based on the available information, the clinical significance of the p.Arg91Gln variant cannot be determined with certainty.
Invitae RCV000597638 SCV001060179 likely benign not provided 2018-02-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001112670 SCV001270355 likely benign Deafness, autosomal dominant 9 2018-01-13 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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