ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.2080+5G>C

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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, Partners HealthCare Personalized Medicine RCV001195622 SCV001366021 uncertain significance not specified 2019-12-23 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The c.2116+5G>C variant in OTOG has been reported by our laboratory in 1 individual with hearing loss who had a second pathogenic OTOG variant confirmed in trans. It has also been identified in 0.2% (19/8650) of Ashkenazi Jewish chromosomes by gnomAD (http://gnomad.broadinstitute.org). This variant is located in the 5' splice region. Computational tools suggest a possible splicing impact, though this information is not predictive enough to determine pathogenicity. In summary, while there is some suspicion for a pathogenic role, due to the high allele frequency, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM3, PP3, BS1_Supporting.
GeneDx RCV001575034 SCV001801945 likely pathogenic not provided 2021-01-25 no assertion criteria provided clinical testing Intronic +5 splice site variant in a gene for which loss-of-function is a known mechanism of disease, and both splice predictors and evolutionary conservation support a deleterious effect, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge

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