ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr) (rs201562855)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Center RCV000515717 SCV000611812 pathogenic Enlarged vestibular aqueduct 2017-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000657916 SCV000779683 pathogenic not provided 2018-05-10 criteria provided, single submitter clinical testing The N392Y missense variant has been previously reported in both the homozygous and compound heterozygous state in association with SLC26A4-related disorders (Huang et al., 2011; Luo et al., 2017; Reyes et al., 2009). Functional studies report that N392Y resulted in the change of intracellular localization of the protein and the loss of anion transporter activity (Ishihara et al., 2010). The variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. In summary, we consider this to be a pathogenic variant.
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital RCV000515717 SCV000902368 likely pathogenic Enlarged vestibular aqueduct 2019-02-26 no assertion criteria provided case-control

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