ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.3913AAG[8] (p.Lys1309_Lys1310dup)

dbSNP: rs368148603
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001583063 SCV001813504 uncertain significance not provided 2024-12-31 criteria provided, single submitter clinical testing In-frame insertion of 2 amino acids in a repetitive region with no known function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001583063 SCV002286890 uncertain significance not provided 2022-06-13 criteria provided, single submitter clinical testing This variant, c.3925_3930dup, results in the insertion of 2 amino acid(s) of the OTOF protein (p.Lys1309_Lys1310dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs768338261, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with OTOF-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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