ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1765C>T (p.Gln589Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002309620 SCV002603497 likely pathogenic Pendred syndrome 2021-11-10 criteria provided, single submitter clinical testing NM_000441.1(SLC26A4):c.1765C>T(Q589*) is expected to be pathogenic in the context of Pendred syndrome. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in SLC26A4, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.
Baylor Genetics RCV004572229 SCV005056834 likely pathogenic Autosomal recessive nonsyndromic hearing loss 4 2024-02-29 criteria provided, single submitter clinical testing

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