ClinVar Miner

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

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000041519 SCV000717014 likely 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.
GeneReviews RCV000021055 SCV000041710 benign Deafness, autosomal recessive 9 2011-04-26 no assertion criteria provided curation Converted during submission to Benign.
Illumina Clinical Services Laboratory,Illumina RCV000314141 SCV000429610 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
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).

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