ClinVar Miner

Submissions for variant NM_001378609.3(OTOGL):c.3434C>T (p.Ala1145Val)

gnomAD frequency: 0.00006  dbSNP: rs374368341
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000608017 SCV000711628 uncertain significance not specified 2017-03-07 criteria provided, single submitter clinical testing The p.Ala1136Val variant in OTOGL has been identified by our laboratory in 1 ind ividual with hearing loss, but the variant did not segregate with disease in an affected sibling. It has also been identified in 3/64954 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s374368341). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational predic tion tools and conservation analyses do not provide strong support for or agains t an impact to the protein. In summary, the clinical significance of the p.Ala11 36Val variant is uncertain.
Revvity Omics, Revvity RCV003133392 SCV003816551 uncertain significance Autosomal recessive nonsyndromic hearing loss 84B 2020-02-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003343941 SCV004068438 uncertain significance Inborn genetic diseases 2023-08-02 criteria provided, single submitter clinical testing The c.3407C>T (p.A1136V) alteration is located in exon 29 (coding exon 29) of the OTOGL gene. This alteration results from a C to T substitution at nucleotide position 3407, causing the alanine (A) at amino acid position 1136 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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