ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.3189G>A (p.Ala1063=) (rs80356573)

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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 RCV000041519 SCV000065214 benign not specified 2010-10-18 criteria provided, single submitter clinical testing Ala1063Ala in exon 26 of OTOF: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located near a splice junction, is listed in dbSNP with a frequency of 1/118 (.8%) in the YRI West African population (rs116649108), is reported as benign in two publication (Varga 2006, Rodriguez-Ballesteros 2008) and has been identified in 5/211 (2.4%) probands tested by our laboratory (at least 2 have Usher syndrome).
Illumina Clinical Services Laboratory,Illumina RCV000021055 SCV000429610 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000992477 SCV000717014 benign not provided 2018-07-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16371502, 18381613, 20301429)
Athena Diagnostics Inc RCV000992477 SCV001144819 benign not provided 2018-08-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286414 SCV001472979 benign none provided 2020-01-29 criteria provided, single submitter clinical testing
GeneReviews RCV000021055 SCV000041710 benign Deafness, autosomal recessive 9 2011-04-26 no assertion criteria provided curation Converted during submission to Benign.

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