ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1546C>T (p.Pro516Ser)

gnomAD frequency: 0.00001  dbSNP: rs753960052
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV000671663 SCV002060294 uncertain significance Pendred syndrome 2021-11-19 criteria provided, single submitter clinical testing NM_000441.1(SLC26A4):c.1546C>T(P516S) is a missense variant classified as a variant of uncertain significance in the context of Pendred syndrome. P516S has been observed in cases with relevant disease (PMID: 26445815, 25372295, 28964290). Functional assessments of this variant are not available in the literature. P516S has been observed in population frequency databases (gnomAD: AMR <0.003%). In summary, there is insufficient evidence to classify NM_000441.1(SLC26A4):c.1546C>T(P516S) as pathogenic or benign. Please note: this variant was assessed in the context of healthy population screening.

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