ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) (rs80356576)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041537 SCV000065232 uncertain significance not specified 2018-08-10 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Asp1322Glu va riant in OTOF has been previously reported by our laboratory in 3 heterozygous C aucasian and 1 heterozygous Latino individuals with hearing loss, but none had a second OTOF variant. The p.Asp1322Glu variant has also been reported as a benig n variant based on its identification in both cases and controls (Varga 2006). I t has also been reported in ClinVar (Variation ID 21848) and has been identified in 0.1% (170/126566) of European chromosomes by gnomAD (http://gnomad.broadinst; dbSNP rs80356576). Computational prediction tools and conservation an alysis suggest that the p.Asp1322Glu variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, wh ile the clinical significance of the p.Asp1322Glu variant is uncertain, these da ta suggest that it is more likely to be benign. ACMG/AMP Criteria applied: PP3, BS1_Supporting.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514025 SCV000610350 likely benign not provided 2017-06-26 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000514025 SCV001144823 uncertain significance not provided 2019-03-12 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000514025 SCV001246605 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000021060 SCV001302003 uncertain significance Deafness, autosomal recessive 9 2017-04-27 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.
GeneDx RCV000514025 SCV001796266 uncertain significance not provided 2021-03-26 criteria provided, single submitter clinical testing Observed in one or more patients with hearing loss in published literature; no specific information provided (Varga et al., 2006); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 16371502)
GeneReviews RCV000021060 SCV000041715 benign Deafness, autosomal recessive 9 2011-04-26 no assertion criteria provided curation Converted during submission to Benign.

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