ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1231G>C (p.Ala411Pro) (rs1293971731)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000603987 SCV000710861 likely pathogenic Rare genetic deafness 2016-05-02 criteria provided, single submitter clinical testing The p.Ala411Pro variant in SLC26A4 has been reported in the compound heterozygou s state in two Latino siblings with Pendred syndrome (Trevino 2001). It has not been identified in large population studies. In addition, a different amino acid change at this position (p.Ala411Thr) has been reported in individuals with Pen dred syndrome (Courtmans 2007) further suggesting that a change at this location may not be tolerated. Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, although additional s tudies are required to fully establish its clinical significance, the p.Ala411Pr o variant is likely pathogenic.

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