ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.3680G>A (p.Arg1227Gln)

gnomAD frequency: 0.00001  dbSNP: rs759559737
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597404 SCV000704503 uncertain significance not provided 2017-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160021 SCV003886240 uncertain significance Inborn genetic diseases 2023-03-07 criteria provided, single submitter clinical testing The c.3680G>A (p.R1227Q) alteration is located in exon 29 (coding exon 29) of the OTOF gene. This alteration results from a G to A substitution at nucleotide position 3680, causing the arginine (R) at amino acid position 1227 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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