ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.1930G>A (p.Val644Ile)

gnomAD frequency: 0.00003  dbSNP: rs727505153
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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, Mass General Brigham Personalized Medicine RCV000156621 SCV000206342 uncertain significance not specified 2014-08-19 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Val644Ile varia nt in OTOF has not been previously reported in individuals with hearing loss or in large population studies. Valine (Val) at position 644 is not conserved in ma mmals or evolutionarily distant species and 1 mammal (Baboon) and many distant s pecies carry an isoleucine (Ile) at this position, supporting that this change m ay be tolerated. Additional computational prediction tools suggest that this var iant may not impact the protein. In summary, while the clinical significance of the Val644Ile variant is uncertain, these data suggest that it is more likely to be benign.

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