ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.311A>G (p.Asn104Ser)

gnomAD frequency: 0.00140  dbSNP: rs534942001
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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 RCV000825080 SCV000966318 benign not specified 2019-02-01 criteria provided, single submitter clinical testing The p.Asn116Ser variant in OTOG is classified as benign because it has been identified in 0.5% (100/19522) of Finnish chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1.
Labcorp Genetics (formerly Invitae), Labcorp RCV002067404 SCV002375938 likely benign not provided 2022-07-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928290 SCV004743363 uncertain significance OTOG-related disorder 2023-11-02 no assertion criteria provided clinical testing The OTOG c.347A>G variant is predicted to result in the amino acid substitution p.Asn116Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.51% of alleles in individuals of European (Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-17574684-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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