ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.297G>A (p.Thr99=)

gnomAD frequency: 0.00001  dbSNP: rs397517941
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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 RCV000041516 SCV000065211 benign not specified 2015-03-02 criteria provided, single submitter clinical testing p.Thr99Thr in exon 4 of OTOF: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and it has been identified in 2.6% (353/13642) of South Asian chromosomes including 8 individuals who were homozygous by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org).
Illumina Laboratory Services, Illumina RCV000276454 SCV000429655 uncertain significance Autosomal recessive nonsyndromic hearing loss 9 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000903927 SCV001048419 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000903927 SCV001903321 benign not provided 2018-11-29 criteria provided, single submitter clinical testing

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