ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2188C>T (p.Gln730Ter) (rs397516428)

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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 RCV000036478 SCV000060133 pathogenic Rare genetic deafness 2010-12-06 criteria provided, single submitter clinical testing The Gln730X variant in SLC26A4 has not been reported in the literature nor previ ously identified by our laboratory. However, this variant leads to a premature s top codon at position 730, which is predicted to lead to a truncated or absent p rotein. Therefore, this variant meets our criteria to be classified as pathogeni c.

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