ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.416-1G>A (rs1057516988)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579267 SCV000680758 pathogenic not provided 2017-11-01 criteria provided, single submitter clinical testing The c.416-1G>A variant in the SLC26A4 gene has been reported previously in association with autosomal recessive hearing loss, with or without thyroid involvement, when present in the homozygous state or when in trans with another disease-causing variant (Palos et al., 2008; Snabboon et al., 2007). This splice site variant destroys the canonical splice acceptor site in intron 4. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. In one study, mRNA transcript analysis of cDNA showed the c.416-1G>A variant resulted in 1 normal mRNA and 3 abnormal splice mRNAs with premature stop codons (Palos et al., 2008). The c.416-1G>A variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.416-1G>A as a pathogenic variant.
Counsyl RCV000410577 SCV000486551 pathogenic Pendred syndrome 2016-06-22 no assertion criteria provided clinical testing
Natera, Inc. RCV000410577 SCV001455797 pathogenic Pendred syndrome 2020-09-16 no assertion criteria provided clinical testing

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