ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2512C>T (p.Leu838=)

gnomAD frequency: 0.00011  dbSNP: rs146139327
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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 RCV000041502 SCV000065197 benign not specified 2016-06-21 criteria provided, single submitter clinical testing p.Leu838Leu in exon 21 of OTOF: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located near a splice junction and it has been identified in 0.6% (86/14302) of South Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs146139327).
GeneDx RCV000914398 SCV000718732 likely benign not provided 2020-10-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19461658, 19250381)
Labcorp Genetics (formerly Invitae), Labcorp RCV000914398 SCV001059572 benign not provided 2024-10-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001136994 SCV001296876 uncertain significance Autosomal recessive nonsyndromic hearing loss 9 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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