ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.5418C>T (p.Ile1806=) (rs116990436)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041574 SCV000065269 benign not specified 2011-03-01 criteria provided, single submitter clinical testing Ile1806Ile in exon 43 of OTOF: This variant is not expected to have clinical sig nificance because it has been identified in a similar frequency in Chinese cases (5/146 (3.4%) chromosomes) and controls (8/192 (4.2%) chromosomes) (Wang 2010). In addition, this variant has been identified by our laboratory in three indivi duals; two of whom have another genetic etiology for their hearing loss. Further more, this variant does not alter an amino acid residue and is not located near a splice junction.
GeneDx RCV000041574 SCV000718730 benign not specified 2017-08-22 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.
Invitae RCV000894107 SCV001038073 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001138929 SCV001299024 benign Deafness, autosomal recessive 9 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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