ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.235G>A (p.Gly79Arg)

dbSNP: rs727504911
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Total submissions: 2
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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 RCV000156296 SCV000206014 uncertain significance not specified 2017-12-26 criteria provided, single submitter clinical testing The p.Gly79Arg variant in OTOF has been identified by our laboratory in 1 indivi dual with sensorineural hearing loss. It has been identified in 7/16640 of East Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broa dinstitute.org/; dbSNP rs727504911). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic ro le. Computational prediction tools and conservation analyses suggest that this v ariant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Gly79 Arg variant is uncertain. ACMG/AMP Criteria applied: PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV001850153 SCV002224218 uncertain significance not provided 2022-03-19 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 79 of the OTOF protein (p.Gly79Arg). This variant is present in population databases (rs727504911, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with OTOF-related conditions. ClinVar contains an entry for this variant (Variation ID: 179506). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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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