ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1554G>A (p.Trp518Ter) (rs727503428)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000151902 SCV000200410 pathogenic Rare genetic deafness 2013-09-09 criteria provided, single submitter clinical testing The p.Trp518X variant in SLC26A4 has been previously reported in two individuals with hearing loss (Pourova 2010, Nonose 2011). One of these individuals was com pound heterozygous and the variant co-segregated with hearing loss in one affect ed sibling (Nonose 2011). This variant has not been identified in large populati on studies. This nonsense variant leads to a premature termination codon at pos ition 518, which is predicted to lead to a truncated or absent protein. In summa ry, this variant meets our criteria to be classified as pathogenic for hearing l oss in an autosomal recessive manner.
Laboratory of Human Genetics, Institute of Biosciences - University of Sao Paulo RCV001580203 SCV001809837 pathogenic Deafness, autosomal recessive 4, with enlarged vestibular aqueduct criteria provided, single submitter research

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