ClinVar Miner

Submissions for variant NM_001378609.3(OTOGL):c.6162_6163del (p.Ala2055fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002283830 SCV002572947 pathogenic Autosomal recessive nonsyndromic hearing loss 84B 2022-09-01 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.002%). Frameshift variant is predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with OTOGL-related disorder (3billion dataset). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
Revvity Omics, Revvity RCV002283830 SCV003810721 likely pathogenic Autosomal recessive nonsyndromic hearing loss 84B 2022-05-19 criteria provided, single submitter clinical testing

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