ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.346G>A (p.Gly116Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV002283754 SCV002572811 likely pathogenic Pendred syndrome 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.98; 3Cnet: 0.93). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with SLC26A4-related disorder (PMID: 25372295). Different missense changes at the same codon (p.Gly116Asp, p.Gly116Val) have been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV001297681 , VCV001346580). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.
Baylor Genetics RCV004572119 SCV005056838 likely pathogenic Autosomal recessive nonsyndromic hearing loss 4 2024-01-27 criteria provided, single submitter clinical testing

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