ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.1926C>T (p.Asn642=) (rs72853741)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041473 SCV000065168 benign not specified 2010-10-06 criteria provided, single submitter clinical testing Asn642Asn in exon 17 of OTOF: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located near a splice junction, is listed in dbSNP (rs72853741 ? no frequency data), has been f ound in 5/150 (3%) cases in our laboratory (two of whom have other hearing loss etiologies), and is reported as benign in two publications (Smith 2008, Varga 20 06).
PreventionGenetics,PreventionGenetics RCV000041473 SCV000316847 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000041473 SCV000717012 benign not specified 2018-01-02 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.
Athena Diagnostics Inc RCV000992467 SCV001144808 benign not provided 2018-08-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000021040 SCV001302247 likely benign Deafness, autosomal recessive 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287029 SCV001473668 benign none provided 2020-08-24 criteria provided, single submitter clinical testing
GeneReviews RCV000021040 SCV000041694 benign Deafness, autosomal recessive 9 2011-04-26 no assertion criteria provided curation Converted during submission to Benign.

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