Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
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. |