ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.4922G>A (p.Arg1641His) (rs200283244)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726625 SCV000345870 uncertain significance not provided 2016-09-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041555 SCV000065250 uncertain significance not specified 2014-04-04 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Arg1641His vari ant in OTOF has been previously identified two Hispanic individuals with hearing loss and one affected sibling by our laboratory However, none of these individu als carried a second variant in the OTOF gene. In addition, the Arg1641His varia nt been identified in 0.8% (1/128) of Mexican chromosomes by the 1000Genomes pro ject (dbSNP rs200283244). Computational prediction tools and conservation analys es suggest that the Arg1641His variant may not impact the protein, though this i nformation is not predictive enough to rule out pathogenicity. Of note, two mamm als, walrus and panda, also carry a histidine (His) at this position. In summary , the clinical significance of this variant cannot be determined with certainty; however, based upon the absence of a second OTOF variant in affected individual s, its presence in the general population, and the lack of conservation at the A rg1641 position, we would lean towards a more likely benign role.

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