ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.617T>A (p.Leu206Ter)

dbSNP: rs2129311933
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002052264 SCV002318873 likely pathogenic Autosomal recessive nonsyndromic hearing loss 4 2022-03-22 criteria provided, single submitter clinical testing Stop-gained (nonsense): 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. It is not observed in the gnomAD v2.1.1 dataset. Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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