ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.4454C>T (p.Pro1485Leu)

gnomAD frequency: 0.00018  dbSNP: rs200699092
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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, Mass General Brigham Personalized Medicine RCV000825417 SCV000966715 uncertain significance not specified 2019-03-01 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Pro1485Leu variant in OTOF has not been previously reported in individuals with hearing loss or auditory neuropathy spectrum disorders, but has been identified in 0.16% (41/25120) of Finnish chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, while the clinical significance of this variant is uncertain, its frequency suggests it is more likely to be benign. ACMG/AMP Criteria applied: BS1_Supporting.
Invitae RCV003736914 SCV004556899 likely benign not provided 2024-01-13 criteria provided, single submitter clinical testing

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