ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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
GeneReviews RCV000021060 SCV000041715 benign Deafness, autosomal recessive 9 2011-04-26 no assertion criteria provided curation Converted during submission to Benign.
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.

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