ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.3384C>T (p.Pro1128=)

gnomAD frequency: 0.00093  dbSNP: rs145151677
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Total submissions: 4
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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 RCV000221095 SCV000270640 likely benign not specified 2016-02-09 criteria provided, single submitter clinical testing p.Pro1128Pro in exon 27 of OTOF: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.3% (30/10234) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs145151677).
GeneDx RCV000827228 SCV000968857 likely benign not provided 2020-09-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000827228 SCV001040725 benign not provided 2024-03-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003937838 SCV004766444 likely benign OTOF-related disorder 2019-11-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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