ClinVar Miner

Submissions for variant NM_001378609.3(OTOGL):c.6864A>G (p.Ile2288Met)

gnomAD frequency: 0.00029  dbSNP: rs145876584
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001658957 SCV001874212 uncertain significance not provided 2021-09-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002477877 SCV002789421 uncertain significance Autosomal recessive nonsyndromic hearing loss 84B 2022-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002539621 SCV003755246 uncertain significance Inborn genetic diseases 2021-09-15 criteria provided, single submitter clinical testing The c.6837A>G (p.I2279M) alteration is located in exon 58 (coding exon 58) of the OTOGL gene. This alteration results from a A to G substitution at nucleotide position 6837, causing the isoleucine (I) at amino acid position 2279 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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