ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.3637G>A (p.Gly1213Ser) (rs140023414)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757588 SCV000885877 uncertain significance not provided 2017-07-30 criteria provided, single submitter clinical testing The p.Gly1213Ser variant (rs140023414) has not been reported in the medical literature, nor has it been previously identified in our laboratory. It is listed in the Genome Aggregation Database (gnomAD) browser with an overall frequency of 0.002% (identified in 6 out of 245,628 chromosomes). The glycine at codon 1213 is moderately conserved considering 12 species (Alamut software v2.9), and computational analyses return mixed results regarding the effect of this variant on OTOF protein structure/function (SIFT: tolerated, PolyPhen2: possibly damaging, and Mutation Taster: disease causing). Therefore, based on the available information, the clinical significance of the p.Gly1213Ser variant cannot be determined with certainty.

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