ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1511T>C (p.Phe504Ser) (rs1298350213)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674503 SCV000799850 uncertain significance Pendred syndrome 2018-05-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825039 SCV000966237 uncertain significance not specified 2018-02-27 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Phe504Ser variant in SLC26A4 has been reported in the compound heterozygous state in one individual with clinical features of Pendred syndrome (Soh 2015) and was absent from large population studies. Computational prediction tools and conservation a nalyses suggest that this variant may impact the protein, though this informatio n is not predictive enough to determine pathogenicity. In summary, while there i s some suspicion for a pathogenic role, the clinical significance of this varian t is uncertain. ACMG/AMP Criteria applied: PM2; PM3; PP3.

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