ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1592A>C (p.Lys531Thr) (rs111033191)

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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 RCV000154281 SCV000203940 uncertain significance not specified 2015-12-08 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Lys531Thr variant in SLC26A4 has been previously reported by our laboratory in one indivi dual with hearing loss and EVA, who also has another reported pathogenic variant in SLC26A4 in trans. This variant has not been identified in large population s tudies. Computational prediction tools and conservation analyses suggest that th e p.Lys531Thr variant may impact the protein, though this information is not pre dictive enough to determine pathogenicity. However, the presence of this variant in trans with a reported pathogenic variant in SLC26A4 in an individual with he aring loss and EVA, the extremely low allele frequency in the general population , and computational predictions increase the likelihood that the p.Lys531Thr var iant is pathogenic. In summary, while there is some suspicion for a pathogenic role, the clinical significance of the p.Lys531Thr variant is uncertain.

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