ClinVar Miner

Submissions for variant NM_001378609.3(OTOGL):c.4976C>T (p.Ser1659Phe)

gnomAD frequency: 0.00055  dbSNP: rs181109105
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001658964 SCV001874225 uncertain significance not provided 2021-07-06 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; This variant is associated with the following publications: (PMID: 27535533)
Ambry Genetics RCV002538552 SCV003658954 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing The c.4949C>T (p.S1650F) alteration is located in exon 42 (coding exon 42) of the OTOGL gene. This alteration results from a C to T substitution at nucleotide position 4949, causing the serine (S) at amino acid position 1650 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001658964 SCV004253354 likely benign not provided 2024-10-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001658964 SCV005191918 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004752034 SCV005352548 likely benign OTOGL-related disorder 2024-03-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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