ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1586T>C (p.Ile529Thr)

dbSNP: rs786204739
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002251135 SCV002521574 likely pathogenic Autosomal recessive nonsyndromic hearing loss 4 2022-05-22 criteria provided, single submitter clinical testing Different pathogenic amino acid change has been reported with sufficient evidence at the same codon (ClinVar ID: VCV000189160, PMID:17718863). In silico prediction tools and conservation analysis predicted that this variant was probably damaging to the protein structure/function (REVEL: 0.815>=0.6, 3CNET: 0.902>=0.75). A missense variant is a common mechanism associated with Deafness, autosomal recessive 4. It is absent from 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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