ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.7033G>A (p.Val2345Met) (rs188832359)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000509298 SCV000606914 not provided Hearing loss no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000218003 SCV000272260 uncertain significance not specified 2015-09-30 criteria provided, single submitter clinical testing The p.Val2345Met variant in OTOG has not been previously reported in individuals with hearing loss, but has been identified in 1/5920 of European chromosomes an d in 1/7670 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, h ttp://exac.broadinstitute.org; rs188832359). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Val2345Met variant i s uncertain.

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