ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.3562-12G>C (rs749205983)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000613499 SCV000731345 uncertain significance not specified 2017-02-28 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The c.3562-12G>C va riant in OTOG has not been previously reported in individuals with hearing loss, but has been identified in 1/5678 European chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP rs749205983). Nucleotid e G at position c.3562-12 is not conserved in mammals or evolutionarily distant species, including 1 mammal (bushbaby) carrying nucleotide C, supporting the pos sibility that this change may be tolerated. This variant is located in the 3' sp lice region. Computational tools do not suggest an impact to splicing. However, this information is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of the c.3562-12G>C variant is uncertain, avail able data suggest that it is more likely to be benign.

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